Taiwanese Journal of Obstetrics & Gynecology最新文献

Objective

We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II (TD2).

Case Report

A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. However, craniofacial anomaly was found on prenatal ultrasound at 21 weeks of gestation, which showed a cloverleaf skull with severe craniosynostosis and relatively short straight long bones. Fetal magnetic resonance imaging (MRI) analysis at 22 weeks of gestation showed a cloverleaf skull, proptosis and relatively shallowing of the sylvian fissures. Prenatal ultrasound at 24 weeks of gestation showed a fetus with a cloverleaf skull with a biparietal diameter (BPD) of 6.16 cm (equivalent to 24 weeks), an abdominal circumference (AC) of 18.89 cm (equivalent to 24 weeks) and a femur length (FL) of 3.65 cm (equivalent to 21 weeks). A tentative diagnosis of TD2 was made. The pregnancy was subsequently terminated, and a 928-g malformed fetus was delivered with severe craniosynostosis, proptosis, midface retrusion, a cloverleaf skull, broad thumbs and broad big toes. The broad thumbs were medially deviated. Whole body X-ray showed a cloverleaf skull and straight long bones. However, molecular analysis of FGFR3 on the fetus revealed no mutation in the target regions. Subsequent whole exome sequencing (WES) on the DNA extracted from umbilical cord revealed a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in the FGFR2 gene.

Conclusion

Fetuses with a Y340C mutation in FGFR2 may present a cloverleaf skull on prenatal ultrasound, and WES is useful for a rapid differential diagnosis of Pfeiffer syndrome from TD2 under such a circumstance.

Objective

Monochorionic-triamniotic (MCTA) triplet pregnancies following artificial reproductive technologies are uncommon. We report a case in which one of two transferred embryos differentiated into an MCTA triplet. This study aimed to investigate the potential factors contributing to MCTA triplet pregnancy.

Case report

A 39-year-old woman underwent her second frozen embryo transfer with hatching blastocysts, which resulted in the detection of an MCTA triplet on ultrasonography. She delivered by cesarean section at 32 weeks of gestation, resulting in the birth of three live male infants. Her medical history and in vitro fertilization treatment were reviewed to identify potential causes.

Conclusion

The etiology of MCTA triplet pregnancy remains multifactorial. In the presented case, prolonged in vitro culture to the blastocyst stage and inner cell mass splitting were potential contributing factors. Further research is needed to fully understand the complexity of MCTA triplet pregnancy.

Objective

We describe a rare case of uterine mesothelial cysts mimicking ovarian cysts in a primipara patient with a history of Cesarean section.

Case report

A 39-year-old female patient with history of Cesarean section presented with dysmenorrhea. Sonography revealed that a hypoechoic and anechoic multicystic complex, which was located on the right side of the pelvic cavity, had infiltrated the adjacent posterior wall of the uterus, and it was preoperatively misdiagnosed as ovarian cysts with suspected endometrioma. Laparoscopic surgery revealed multiple cystic lesions filled with clear yellow fluid on the posterior uterine wall instead of the adnexa. Laparoscopic uterine cystectomy was performed, and the patient's recovery was uneventful. Pathohistological and immunohistochemical examinations confirmed the diagnosis of uterine mesothelial cysts.

Conclusion

Uterine mesothelial cysts should be considered in the differential diagnosis of pelvic lesions. Increasing the awareness of this rare disease can contribute to improved evaluation, decision-making, and disease management.

Objective

Impetigo herpetiformis (IH) is a rare form of pustular psoriasis which may result in maternal and fetal morbidity and even mortality. Deficiency of interleukin-36 receptor antagonist (DITRA) is the most frequently identified genetic defect of IH. Currently there are no biologics approved for IH despite the revolutionary role of biologics in the treatment of plaque and pustular psoriasis. Anecdotal reports of biologics use in DITRA patients with IH are also limited.

Case reports

We present herein a case series of 6 Chinese IH patients harboring IL36RN gene c.115+6T>C mutation during 8 pregnancies, treated with various biologics, including adalimumab, etanercept and secukinumab.

Conclusion

Most pregnancy courses were uneventful, except for one woman who had recurrent episodes of decreased fetal heart rate variability after adalimumab injections, which subsided after switching to etanercept. The treatment effectiveness and safety demonstrated in our cases suggested the role of biologics for the treatment of IH in patients with DITRA.

Objective

To explore a precise association between tumor location and lymph node (LN) biopsy algorithm in uterine confined endometrial cancer (EC).

Materials and methods

Patients with EC treated in the Department of Obstetrics and Gynecology, South Branch of Fujian Provincial Hospital were included in this observational retrospective study. Based on the procedure of treatment, patients were separated to stage I (2015.07–2019.09) and stage II (2019.09–2021.9). In each stage, patients were separated to high and low-risk group by the predicted results. Patients in the high-risk group received systematic lymphadenectomy in stage I and sentinel lymph node (SLN) dissection in stage II. The efficiency of lymph node metastasis (LNM) detection rates was compared between stage I and stage II cases. Precise lymph node biopsy algorithm was also constructed based on the outcomes of stage II.

Results

Overall, 43 patients, 28 in stage I and 15 in stage II, were included in the study. No recurrence or death cases had been found within follow-up terms. Based on the difference in the detection efficiency of LNM (p > 0.05), there was no difference between two stages. Thus, systematic lymphadenectomy and SLN biopsy provided similar success rates. The location of tumor site was also important for deciding whether pelvic or para-aortic SLN should be sampled for LNM.

Conclusions

Precise SLN biopsy for EC confined to the uterus showed comparable LNM detection rate as systematic lymphadenectomy. EC location may be used to determine whether pelvic or para-aortic SLN sampling should be conducted for treatment.

Objective

Longitudinal hematological changes throughout twin pregnancies have not been reported. This study aimed to reveal longitudinal changes in hematological indices in twin pregnancies.

Materials and methods

We conducted a retrospective chart review of hematological changes in uncomplicated twin pregnancies delivered at ≥37 weeks of gestation between 2010 and 2013 and randomly selected uncomplicated singletons during the same period. A complete blood count and hemogram were performed as blood examinations in the first trimester (9–13 weeks), late second trimester (22–27 weeks), mid-third trimester (33–35 weeks, only in twin pregnancies), and late third trimester (36–38 weeks). We evaluated inter-trimester differences in hematological indices and compared the values between twin and singleton pregnancies in each trimester.

Results

The final analysis group included 60 twin pregnancies and 63 singleton pregnancies. The white blood cell (WBC) count in twin pregnancies decreased throughout the pregnancy after the first trimester and became significantly lower than that in singletons in the late third trimester. The WBC count showed only a slight decrease in the third trimester in singleton pregnancies, whereas it showed a marked decrease throughout the pregnancy in twin pregnancies. The marked decrease in the total WBC count in twin pregnancies is mainly due to a decrease in neutrophils. The red blood cell count and hemoglobin and hematocrit values in twin pregnancies showed more marked decreases in the second trimester than in singletons. No decrease was observed after the second trimester of pregnancy. The platelet count decreased in the third trimester of twin pregnancies.

Conclusion

We clarified the longitudinal hematological changes in twin pregnancies that showed augmentation of or differed from those of singleton pregnancies. It should be specifically mentioned that the WBC count markedly decreased through pregnancy after the first trimester, which is a characteristic change in twin pregnancies.

Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may worry about the likelihood of adverse pregnancy outcomes, fetal abnormality and the necessity of invasive procedures for confirmation of fetal mosaic trisomy 7 and uniparental disomy (UPD) 7. This review provides a comprehensive information on the update issues concerning genetic counseling of NIPT trisomy 7-positive pregnancies.