P. Galoppi, U. Rocca, G. Giovannetti, G. Perrone, M. Gozzer, M. S. Bafti, Giovanna Biondino, F. Equitani, A. Neri, Giovanna Savastano, Damiana Pompeo, Benedetta Lobozzo, I. Santilio, F. Falco, Adele Delli Paoli, R. Brunelli, S. Coluzzi
Abstract Hemolytic disease of the fetus and newborn (HDFN) remains the main cause of fetal anemia primarily due to RH-D maternal incompatibility but also to other rarer antigens. Anti-Kell mediated immunization is a rare disease involving about 0.1% of pregnant women causing a more severe HDFN compared to RH-D both for its anemia mechanism and because of lack of preventive immunoglobulin therapy. Although the standard treatment of fetal anemia is intrauterine transfusion (IUT), at early gestational age with high antibody titer and absence of ultrasound anemia signs, noninvasive strategies can be offered. We present a case of severe anti-Kell and anti-C Rh positive immunized pregnancy with high Kell titer at 14 weeks of gestation that successfully treated with plasma exchange and intravenous immunoglobulin to prevent the onset of fetal anemia and to avoid the need for IUT.
{"title":"Prevention of Fetal Anemia with Plasma Exchange and Intravenous Immunoglobulin in a Pregnancy with a Complex Anti-K and Anti-C Alloimmunization","authors":"P. Galoppi, U. Rocca, G. Giovannetti, G. Perrone, M. Gozzer, M. S. Bafti, Giovanna Biondino, F. Equitani, A. Neri, Giovanna Savastano, Damiana Pompeo, Benedetta Lobozzo, I. Santilio, F. Falco, Adele Delli Paoli, R. Brunelli, S. Coluzzi","doi":"10.1055/s-0043-1770735","DOIUrl":"https://doi.org/10.1055/s-0043-1770735","url":null,"abstract":"Abstract Hemolytic disease of the fetus and newborn (HDFN) remains the main cause of fetal anemia primarily due to RH-D maternal incompatibility but also to other rarer antigens. Anti-Kell mediated immunization is a rare disease involving about 0.1% of pregnant women causing a more severe HDFN compared to RH-D both for its anemia mechanism and because of lack of preventive immunoglobulin therapy. Although the standard treatment of fetal anemia is intrauterine transfusion (IUT), at early gestational age with high antibody titer and absence of ultrasound anemia signs, noninvasive strategies can be offered. We present a case of severe anti-Kell and anti-C Rh positive immunized pregnancy with high Kell titer at 14 weeks of gestation that successfully treated with plasma exchange and intravenous immunoglobulin to prevent the onset of fetal anemia and to avoid the need for IUT.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49097843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Despite newer techniques like tissue Doppler and speckle tracking, the need for a spectral Doppler still exists. It can give parameters that are not possible by newer techniques like peak systolic velocity and the ratio of time and velocity. In this article, we discuss the technique for doing pulsed wave Doppler for fetal cardiac valves.
{"title":"Pulsed Wave Doppler of Cardiac Valves","authors":"Karthik Senthilvel","doi":"10.1055/s-0043-1770736","DOIUrl":"https://doi.org/10.1055/s-0043-1770736","url":null,"abstract":"Abstract Despite newer techniques like tissue Doppler and speckle tracking, the need for a spectral Doppler still exists. It can give parameters that are not possible by newer techniques like peak systolic velocity and the ratio of time and velocity. In this article, we discuss the technique for doing pulsed wave Doppler for fetal cardiac valves.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49419575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Management of fetal supraventricular tachycardia at times can be tricky and challenging when they are secondary to underlying metabolic or hormonal problems. It can difficult to unmask the real culprit unless thorough evaluation is performed.
{"title":"Unmasking the Culprit: Maternal Hyperthyroidism Presenting as Fetal Supraventricular Tachycardia and Hydrops","authors":"Parag Bhalgat, Pooja Bhalgat","doi":"10.1055/s-0043-57023","DOIUrl":"https://doi.org/10.1055/s-0043-57023","url":null,"abstract":"Abstract Management of fetal supraventricular tachycardia at times can be tricky and challenging when they are secondary to underlying metabolic or hormonal problems. It can difficult to unmask the real culprit unless thorough evaluation is performed.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49147345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Malformations of cortical development are rarely diagnosed in utero. Cortical malformations are aberrations in the process of corticogenesis. We report two rare and unique cases of evolving cortical malformation with unusual ultrasonogram markers: (1) narrow cavum septum pellucidum and (2) ill-defined and irregular lateral ventricular borders on the midtrimester anomaly scan. This was further confirmed by fetal brain evaluation on magnetic resonance imaging with additional information on irregular ventricular borders, scattered hyperintensities in the cerebral parenchyma and periventricular area, loss of cerebral layering pattern at 24 weeks gestation in one case, and hemimegalencephaly in another case with a probable diagnosis of evolving cortical malformation. Literature review reveals the above as an unusual presentation on the anomaly scan.
{"title":"A Case Report on Prenatal Diagnosis of Evolving Cortical Malformations: A Rare Ultrasound Marker","authors":"Aditi Shah, Navya Bharathi, Tejaswi Reddy","doi":"10.1055/s-0043-57036","DOIUrl":"https://doi.org/10.1055/s-0043-57036","url":null,"abstract":"Abstract Malformations of cortical development are rarely diagnosed in utero. Cortical malformations are aberrations in the process of corticogenesis. We report two rare and unique cases of evolving cortical malformation with unusual ultrasonogram markers: (1) narrow cavum septum pellucidum and (2) ill-defined and irregular lateral ventricular borders on the midtrimester anomaly scan. This was further confirmed by fetal brain evaluation on magnetic resonance imaging with additional information on irregular ventricular borders, scattered hyperintensities in the cerebral parenchyma and periventricular area, loss of cerebral layering pattern at 24 weeks gestation in one case, and hemimegalencephaly in another case with a probable diagnosis of evolving cortical malformation. Literature review reveals the above as an unusual presentation on the anomaly scan.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49457773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
P. Ganesan, B. Balakrishnan, Meenu Batra Parasuram
Abstract Dacryocystocele is a rare variant of obstruction of the nasolacrimal duct that results in a fluid-filled, closed sac. It often resolves by the spontaneous perforation of the distal membrane during the early neonatal period, resulting in drainage of the accumulated fluid. If persisting, this benign condition can be usually treated postnatally. If the cysts occur bilaterally, there can be an obstruction to the nasal passage due to their possible intranasal extension and might require surgical intervention postnatally to prevent or treat respiratory distress. Also, it may be a part of a few syndromes, which makes the early prenatal diagnosis very important. In this case report, we present a case of unilateral dacryocystocele reported as early as 26 weeks, 3 days of gestation detected by ultrasound that spontaneously resolved by 33 weeks. This is one of the earliest reported three-dimensional/four-dimensional ultrasound diagnosis of dacryocystocele.
{"title":"A Rare Case of Dacryocystocele Diagnosed by Antenatal Ultrasonography at 26 Weeks of Gestation","authors":"P. Ganesan, B. Balakrishnan, Meenu Batra Parasuram","doi":"10.1055/s-0043-57003","DOIUrl":"https://doi.org/10.1055/s-0043-57003","url":null,"abstract":"Abstract Dacryocystocele is a rare variant of obstruction of the nasolacrimal duct that results in a fluid-filled, closed sac. It often resolves by the spontaneous perforation of the distal membrane during the early neonatal period, resulting in drainage of the accumulated fluid. If persisting, this benign condition can be usually treated postnatally. If the cysts occur bilaterally, there can be an obstruction to the nasal passage due to their possible intranasal extension and might require surgical intervention postnatally to prevent or treat respiratory distress. Also, it may be a part of a few syndromes, which makes the early prenatal diagnosis very important. In this case report, we present a case of unilateral dacryocystocele reported as early as 26 weeks, 3 days of gestation detected by ultrasound that spontaneously resolved by 33 weeks. This is one of the earliest reported three-dimensional/four-dimensional ultrasound diagnosis of dacryocystocele.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48809354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Alloimmunization due to anti-M antibodies are rare since they present as naturally occurring immunoglobulin M antibodies, which do not cross the placenta. Very rarely, these may convert to immunoglobulin G antibodies and cause hemolytic disease of the fetus and newborn. We present the case of a fifth gravida, with previous two miscarriages and an unexplained stillbirth, booked with us for the 8 weeks. At booking, she was found to have anti-M antibodies with titers of 1:2, which was stable throughout pregnancy. At 35 weeks, there was evidence of severe fetal anemia and features of hydrops on the ultrasound scan, requiring delivery. Neonatal direct Coombs test was positive. Baby had a hemoglobin of 8.8 mg/dL and a reticulocyte count of 5.5% at birth, requiring two units of blood transfusion. He also required 6 days of intensive phototherapy. Alloimmunization due to anti-M antibodies should be suspected in women with previous bad obstetric history. The maternal antibody titers may not be a true reflection of the severity of fetal affection, and hence not reliable for monitoring in pregnancy
{"title":"Anti-M Alloimmunization following Term Stillbirth: A Case Report and Review of the Literature","authors":"M. Beck, H. V., P. Navaneethan, Manish Kumar","doi":"10.1055/s-0043-57024","DOIUrl":"https://doi.org/10.1055/s-0043-57024","url":null,"abstract":"Abstract Alloimmunization due to anti-M antibodies are rare since they present as naturally occurring immunoglobulin M antibodies, which do not cross the placenta. Very rarely, these may convert to immunoglobulin G antibodies and cause hemolytic disease of the fetus and newborn. We present the case of a fifth gravida, with previous two miscarriages and an unexplained stillbirth, booked with us for the 8 weeks. At booking, she was found to have anti-M antibodies with titers of 1:2, which was stable throughout pregnancy. At 35 weeks, there was evidence of severe fetal anemia and features of hydrops on the ultrasound scan, requiring delivery. Neonatal direct Coombs test was positive. Baby had a hemoglobin of 8.8 mg/dL and a reticulocyte count of 5.5% at birth, requiring two units of blood transfusion. He also required 6 days of intensive phototherapy. Alloimmunization due to anti-M antibodies should be suspected in women with previous bad obstetric history. The maternal antibody titers may not be a true reflection of the severity of fetal affection, and hence not reliable for monitoring in pregnancy","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49199773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dinesh Choudhary, Charu Sharma, S. Choudhary, Shafaq Bhandari
Abstract Hydrops fetalis (HF) is a serious fetal condition characterized by abnormal accumulation of fluid in fetal soft tissues and serous cavities. HF can be immune hydrops fetalis (IHF) or nonimmune hydrops fetalis (NIHF) depending upon the presence of antibodies in the mother. We report a case of euploid NIHF who delivered at 34 weeks and had spontaneous recovery. The baby had gross fetal ascites and mild pleural and pericardial effusion. After a thorough workup, no definite cause could be found. However, the ascites spontaneously resolved. The baby had many peaks and valleys during the initial 3 months of life, doing well at 6 months of age and is under follow-up. This case report highlights the practical workup and diagnostic algorithm of NIHF and provides an updated review.
{"title":"The Course, Prognosis, and Hand-Holding of Parents in Nonimmune Hydrops Fetalis—A Case Report with a Brief Review","authors":"Dinesh Choudhary, Charu Sharma, S. Choudhary, Shafaq Bhandari","doi":"10.1055/s-0043-57038","DOIUrl":"https://doi.org/10.1055/s-0043-57038","url":null,"abstract":"Abstract Hydrops fetalis (HF) is a serious fetal condition characterized by abnormal accumulation of fluid in fetal soft tissues and serous cavities. HF can be immune hydrops fetalis (IHF) or nonimmune hydrops fetalis (NIHF) depending upon the presence of antibodies in the mother. We report a case of euploid NIHF who delivered at 34 weeks and had spontaneous recovery. The baby had gross fetal ascites and mild pleural and pericardial effusion. After a thorough workup, no definite cause could be found. However, the ascites spontaneously resolved. The baby had many peaks and valleys during the initial 3 months of life, doing well at 6 months of age and is under follow-up. This case report highlights the practical workup and diagnostic algorithm of NIHF and provides an updated review.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44076003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renu Makwana, P. Makwana, Simran Thawani, N. R. Malleda
Abstract Factor VII deficiency, also known as Alexander's disease, is a rare bleeding disorder due to homozygous or compound heterozygous mutations in the F7 gene and is inherited in an autosomal recessive manner. The condition manifests as a wide range of symptoms, based on the severity of the disease, and may appear at any age. While family and personal histories are essential for identification of the disorder, there is usually no history due to the autosomal recessive nature of the condition. Here, we report a case of factor VII deficiency in a family that was identified due to multiple neonatal deaths and the importance of genetic counseling and prenatal diagnosis for such scenarios.
{"title":"Multiple Neonatal Deaths and Alexander's Disease: A Case Report","authors":"Renu Makwana, P. Makwana, Simran Thawani, N. R. Malleda","doi":"10.1055/s-0043-57020","DOIUrl":"https://doi.org/10.1055/s-0043-57020","url":null,"abstract":"Abstract Factor VII deficiency, also known as Alexander's disease, is a rare bleeding disorder due to homozygous or compound heterozygous mutations in the F7 gene and is inherited in an autosomal recessive manner. The condition manifests as a wide range of symptoms, based on the severity of the disease, and may appear at any age. While family and personal histories are essential for identification of the disorder, there is usually no history due to the autosomal recessive nature of the condition. Here, we report a case of factor VII deficiency in a family that was identified due to multiple neonatal deaths and the importance of genetic counseling and prenatal diagnosis for such scenarios.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45759302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Nonimmune fetal hydrops (NIFH) has underlying diverse etiology with generalized lymphatic dysplasia being one such cause. Lymphatic malformation-6 is a type of lymphatic dysplasia that is due to homozygous or compound heterozygous variants in the PIEZO1 gene. The clinical features associated with this condition during fetal life are nonimmune fetal hydrops that manifests with widespread lymphatic edema, with other systemic manifestations like pericardial/pleural effusions, chylothorax along with lymphangiectasia seen primarily in lungs and intestines. We present a case of recurrent NIFH in a family due to a novel pathogenic mutation in PIEZO1 gene. This variant was identified in homozygous state in all the three affected fetuses and in heterozygous state in both the parents. The couple were counseled regarding recurrence of this condition and given reproductive options for future pregnancies.
{"title":"Recurrent Nonimmune Fetal Hydrops Due to a Novel Pathogenic Variant in PIEZO1 Gene: A Case Report from South India","authors":"Lekshmi Sivaraman Nair, Aditi Dubey, Nisha Mohan, Seneesh Kumar Vikraman, Jay Desai, Manasa Madadi","doi":"10.1055/s-0043-57037","DOIUrl":"https://doi.org/10.1055/s-0043-57037","url":null,"abstract":"Abstract Nonimmune fetal hydrops (NIFH) has underlying diverse etiology with generalized lymphatic dysplasia being one such cause. Lymphatic malformation-6 is a type of lymphatic dysplasia that is due to homozygous or compound heterozygous variants in the PIEZO1 gene. The clinical features associated with this condition during fetal life are nonimmune fetal hydrops that manifests with widespread lymphatic edema, with other systemic manifestations like pericardial/pleural effusions, chylothorax along with lymphangiectasia seen primarily in lungs and intestines. We present a case of recurrent NIFH in a family due to a novel pathogenic mutation in PIEZO1 gene. This variant was identified in homozygous state in all the three affected fetuses and in heterozygous state in both the parents. The couple were counseled regarding recurrence of this condition and given reproductive options for future pregnancies.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43491358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Murarka, U. Kotecha, Dirgha Pamnani, Parth Shah, S. Sharda
Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility for aneuploidies for common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated with major and minor fetal malformations and can be screened by antenatal fetal scan and first- and second-trimester biochemical screening. We describe a case with high risk for trisomy 13 on NIPT, but without any fetal abnormalities on fetal scan. As recommended, follow-up invasive testing of amniotic fluid by chromosomal microarray detected a microduplication on chromosome 13, which has been associated with congenital microcoria. This case demonstrates the high sensitivity and clinical utility of NIPT in detecting rare copy number variations, which can assist families in making informed reproductive decisions. This also emphasizes that all screen positive NIPT cases should be confirmed with an appropriate diagnostic test by an invasive method.
{"title":"A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening","authors":"S. Murarka, U. Kotecha, Dirgha Pamnani, Parth Shah, S. Sharda","doi":"10.1055/s-0043-57251","DOIUrl":"https://doi.org/10.1055/s-0043-57251","url":null,"abstract":"Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility for aneuploidies for common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated with major and minor fetal malformations and can be screened by antenatal fetal scan and first- and second-trimester biochemical screening. We describe a case with high risk for trisomy 13 on NIPT, but without any fetal abnormalities on fetal scan. As recommended, follow-up invasive testing of amniotic fluid by chromosomal microarray detected a microduplication on chromosome 13, which has been associated with congenital microcoria. This case demonstrates the high sensitivity and clinical utility of NIPT in detecting rare copy number variations, which can assist families in making informed reproductive decisions. This also emphasizes that all screen positive NIPT cases should be confirmed with an appropriate diagnostic test by an invasive method.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42935869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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