Successful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy.

A new form of transient antenatal Bartter syndrome (aBS) was recently identified that is associated with the X-linked MAGED2 variant. Case reports demonstrate that this variant leads to severe polyhydramnios that may result in preterm birth or pregnancy loss. There is limited but promising evidence that amnioreductions may improve fetal outcomes in this rare condition. We report a woman with two affected pregnancies. In the first pregnancy, the patient was diagnosed with mild-to-moderate polyhydramnios in the second trimester that ultimately resulted in preterm labor and delivery at 25 weeks with fetal demise. Whole exome sequencing of the amniotic fluid sample resulted after the pregnancy loss and revealed a c.1337G>A MAGED2 variant that was considered diagnostically. The subsequent pregnancy was confirmed by chorionic villi sampling to also be affected by this variant. The pregnancy was managed with frequent ultrasounds and three amnioreductions that resulted in spontaneous vaginal delivery at 37 weeks and 6 days of a viable newborn with no evidence of overt electrolyte abnormalities suggesting complete resolution. A detailed review of the published cases of MAGED2-related transient aBS is provided. Our review focuses on individuals who received antenatal treatment. A total of 31 unique cases of MAGED2-related transient aBS were compiled. Amnioreduction was performed in 23 cases and in 18 cases no amnioreduction was performed. The average gestational age at delivery was significantly lower in cases without serial amnioreduction (28.7 vs. 30.71 weeks, p = 0.03). Neonatal mortality was seen in 5/18 cases without serial amnioreduction, and no mortality was observed in the cases with serial amnioreduction. In cases of second trimester severe polyhydramnios without identifiable cause, whole exome sequencing should be considered. Intensive ultrasound surveillance and serial amnioreduction is recommended for the management of MAGED2-related transient aBS.

Optimizing preconception care and interventions for improved population health.

There is growing literature indicating that optimal preconception health is associated with improved reproductive, perinatal, and pediatric outcomes. Given that preconception care is recommended for all individuals planning a pregnancy, medical providers and public health practitioners have a unique opportunity to optimize care and improve health outcomes for reproductive-aged individuals. Knowledge of the determinants of preconception health is important for all types of health professionals, including policy makers. Although some evidence-based recommendations have already been implemented, additional research is needed to identify factors associated with favorable health outcomes and to ensure that effective interventions are made in a timely fashion. Given the largely clinical readership of this journal, this piece is primarily focused on clinical care. However, we acknowledge that optimizing preconception health for the entire population at risk of pregnancy requires broadening our strategies to include population-health interventions that consider the larger social systems, structures, and policies that shape individual health outcomes.

Doppler velocimetry discordance between paired umbilical artery vessels and clinical implications in fetal growth restriction.

BACKGROUND: Studies revealing a discrepancy in umbilical artery Dopplers between the two umbilical arteries in normally-grown fetuses necessitates further evaluation of the paired umbilical arteries in the setting of fetal growth restriction as this is a critical component in the surveillance of this population. OBJECTIVE: Umbilical artery Doppler sampling in fetal growth restriction is typically assessed in 1 umbilical artery in a free loop of cord. Although discrepancies of >20% between the 2 umbilical arteries occur in 1 of 3 normal pregnancies, this has not been assessed in fetal growth restriction. Our objectives were to determine the frequency of discordant Doppler pulsatility indices between paired umbilical arteries in a fetal growth restriction cohort and to determine if sampling of 1 or both arteries alters surveillance or timing of delivery. STUDY DESIGN: A cohort of 425 growth-restricted fetuses between 25 and 39 weeks of gestation had umbilical artery Doppler pulsatility indices determined from both umbilical arteries in a midsegment of the cord to determine: (1) the discrepancy percentage between paired umbilical artery pulsatility indices and (2) the frequency of both arteries being normal, abnormal, or discordant (pulsatility index < and >95th percentile). To determine what sampling method increased the detection of an abnormal Doppler index, 3 sampling methods were compared: (1) average pulsatility index from both umbilical arteries, (2) pulsatility index from 1 umbilical artery chosen randomly, and (3) highest pulsatility index of the 2 umbilical arteries. RESULTS: The mean percentage difference between umbilical artery pulsatility indices was 11.7%, and in 15.8% of cases, it exceeded 20%. Both umbilical artery pulsatility indices were normal in 71.1% (302/425), abnormal in 12.2% (52/425), and discordant in 16.7% (71/425) of cases (P<.0001). Of the 3 sampling methods, the pulsatility index was abnormal in: (1) 19.2% (82/425) of cases when averaged from both umbilical arteries, (2) 22.1% (94/425) of cases when choosing 1 umbilical artery at random, and (3) 28.9% (123/425) of cases when the highest umbilical artery pulsatility index was used (P=.003). CONCLUSION: In this large fetal growth restriction cohort, the overall discrepancy between the 2 umbilical artery pulsatility indices was 11.7%. Among fetuses with at least 1 abnormal umbilical artery pulsatility index, 71 of 123 (57.7%) had 1 normal pulsatility index and 1 abnormal. Thus, the number of arteries sampled and the sampling method used may alter clinical decision-making, including frequency of surveillance and timing of delivery.

Preconception Counseling: Identifying Ways to Improve Services.

Objective The aim of this retrospective study was to evaluate the maternal conditions for which preconception services are provided and the routine services and recommendations offered through the Maternal Fetal Medicine group at the University of Colorado (CU). The study sought to determine how services and recommendations differ by maternal condition, demographics, and reproductive health history. Materials and Methods Charts of patients who received preconception counseling through the CU MFM department during 2018 were reviewed to evaluate maternal conditions and the type of counseling patients received. Patients were grouped by their referral reason and subsequently by counseling recommendations to either proceed with immediate conception, defer immediate conception pending completion of further recommendations or to not conceive. Results Of the fifty-nine patients referred to preconception counseling, 52% ( n = 31) of the women were referred for maternal disease, 40% ( n = 24) for infertility, 32% ( n = 19) for previous poor obstetric outcomes, 30% ( n = 18) for advanced maternal age and finally, 15% ( n = 9) for gynecologic anatomic abnormalities. Conclusion During the initial evaluation, 58% ( n = 34) of patients were determined to have no concern for immediate conception while 7% ( n = 4) were ultimately advised to not conceive. Using this data, we identified areas of preconception counseling that standardization will improve by ensuring patients receive comparable services and advice.

Spontaneous dichorionic-diamniotic twins in a noncommunicating uterine horn: A case report.

BACKGROUND: We present a rare case of a dichorionic-diamniotic twin pregnancy in a noncommunicating rudimentary uterine horn diagnosed prior to rupture at 12 weeks of gestation. CASE: A 33-year-old woman with history of two prior spontaneous abortions presented with a spontaneously conceived dichorionic-diamniotic twin pregnancy. Routine first-trimester screening ultrasound detected an extrauterine twin pregnancy. The patient was admitted for observation and treatment planning. Magnetic resonance imaging (MRI) of the pelvis led to the radiologic diagnosis of suspected abdominal ectopic pregnancy. Exploratory laparotomy led to an intraoperative diagnosis of twin pregnancy within a rudimentary uterine horn, which was removed without incident. CONCLUSION: This is a rare case of a twin pregnancy contained in a noncommunicating rudimentary uterine horn. The presence of this horn was not detected on ultrasonography or MRI.

Furcate Umbilical Cord Insertion: Disparate Outcomes of a Rare Obstetrical Finding. A Case Report.

BACKGROUND: Furcate umbilical cord insertions are rare obstetrical findings. This variant is defined by an umbilical cord which branches prior to contacting the placental surface. The vessels are left vulnerable to injury as they often separate from the cord substance. CASES: In case 1, a duplex placenta and bifurcate umbilical cord were diagnosed at routine anatomy ultrasound, and no significant fetal anomalies were associated with these findings. There was difficulty with placental extraction, leading to postpartum dilation and curettage. In case 2, the furcate umbilical cord was diagnosed on postpartum evaluation after emergent delivery. It was found in conjunction with VACTERL association of the fetus. CONCLUSION: Abnormal placentation and umbilical cord insertion can be diagnosed prenatally. Earlier recognition will allow for earlier identification of possible associated fetal anomalies, delivery planning, and close observation for maternal and fetal complications.

Postpartum sudden death from pulmonary hypertension in the setting of portal hypertension.

BACKGROUND: Pulmonary arterial hypertension carries a high maternal mortality rate in the peripartum period. Pulmonary hypertension may arise as a complication of portal hypertension with poor patient survival. CASE: A young primigravida with chronic autoimmune hepatitis and portal hypertension presented at 26 4/7 weeks of gestation with contractions and bleeding. Within 48 hours, an 892-g female fetus was delivered vaginally without complications. On postpartum day 2, the mother was found on the floor by her bed. Although initially responsive, within minutes she was unresponsive and resuscitation was unsuccessful. Postmortem examination showed cirrhosis and plexogenic pulmonary arteriopathy. CONCLUSION: Increased awareness of pulmonary hypertension as a complication of portal hypertension and a high index of clinical suspicion are necessary to diagnose pregnant women with this condition and provide appropriate prenatal counseling and peripartum intervention.