Saki Kido

Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele

A co‐existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full‐term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra‐thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia.

Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea

Congenital chloride diarrhea is a rare autosomal recessive disease characterized by profound watery diarrhea and is known to be caused by mutations in the gene encoding the intestinal chloride/bicarbonate (Cl–/HCO3–) exchanger. The main problems faced by neonates with this disease are dehydration, electrolyte imbalances, and metabolic alkalosis caused by the diarrhea, all of which can be life threatening. However, the long-term outcome is good if the condition is diagnosed early and managed appropriately. Congenital chloride diarrhea begins in fetal life, and previous case reports have described in utero sonographic findings, including polyhydramnios and multiple distended bowel loops.1–7 Although characteristic of congenital chloride diarrhea, these findings can also be observed in fetal smallbowel obstruction, making it difficult to arrive at a definitive diagnosis during fetal life. Generalized bowel dilatation and normal peristalsis may suggest the diagnosis of congenital chloride diarrhea over bowel obstruction, but these findings are subjective. Indeed, it seems that congenital chloride diarrhea is frequently misdiagnosed as smallbowel obstruction, resulting in unnecessary anesthesia and surgery.8,9 There is no definitive cure for the diarrhea, but accurate prenatal diagnosis is important to exclude a surgically treatable condition, to improve patient care, and to provide appropriate counseling about the expected disease course. A 27-year-old woman, gravida 2, para 1, was referred to our hospital at a gestational age of 34 weeks 4 days with polyhydramnios and a distended fetal bowel. Sonography was performed with a Voluson E8 system (GE Healthcare, Waukesha, WI), which showed a single fetus of a size consistent with dates. Polyhydramnios was noted, with the deepest amniotic fluid pocket measuring 9.3 cm. Uniformly dilated bowel loops with a honeycomb appearance were seen (Figure 1A), and bowel peristalsis was recognized. At first, we suspected fetal small-bowel obstruction, but a detailed examination using color Doppler mapping revealed a frequent streaming motion at the fetal anus, suggestive of diarrheal stool passage (Figure 1B). On the basis of these findings, we diagnosed fetal congenital chloride diarrhea. At 35 weeks 2 days, premature rupture of membranes occurred. Speculum examination showed brownish red, watery fluid leaking (Figure 1C). Analysis of this amniotic fluid revealed the following values: alkaline phosphatase, 2437 U/L; γ-glutamyl transferase, 306 U/L; sodium, 137 mmol/L; potassium, 4.5 mmol/L, Cl–, 110 mmol/L; calcium, 7.0 mg/dL; and magnesium, 1.6 mg/dL. Labor occurred spontaneously and progressed uneventfully, resulting in delivery of a male neonate weighing 2130 g with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. The neonate had an episode of watery diarrhea, similar in consistency to amniotic fluid, just after delivery (Figure 1D). His general condition was good, but he was admitted to the neonatal intensive care unit as a preterm neonate. His stool

Expectant management of pregnancies complicated by fetal growth restriction without any evidence of placental dysfunction at term: Comparison with routine labor induction

To assess the feasibility and practicality of expectant management for pregnancies with fetal growth restriction (FGR) at term without evidence of placental dysfunction.

Pregnancy managed by unfractionated heparin after mechanical aortic valve replacement

Abstract Pregnancy after mechanical valve replacement involves high risk. Maternal valve thrombosis and hemorrhagic complications are associated with lethal outcomes; therefore, strict anticoagulant therapy is needed. Our patient was 26-year-old primiparous woman. She had undergone aortic valve replacement with a mechanical valve at 4 years of age and had used warfarin 3 mg per day since then. Because of her desire for a baby, she stopped warfarin and conceived spontaneously. She was referred to our hospital. After being informed of her choices, unfractionated heparin (UFH) administration was started. She experienced mild heart failure with sacroiliitis, bacteremia, and hematuria during pregnancy. She delivered her newborn at 37 weeks. Blood loss at delivery was 220 g. Administration of UFH was restarted 4 h after delivery and 3 mg of warfarin was administered from postpartum day (PPD) 6. Hemostatic suturing was required for vaginal bleeding on PPD7. A therapeutic dose of warfarin was achieved on PPD9. Although warfarin use is recommended as anticoagulant therapy for pregnant woman with mechanical valves, the safety and efficacy of UFH have not yet been clarified because of its limited use. More cases are needed to clarify this.

Thoracoamniotic shunting for fetal pleural effusion with hydropic change using a double-basket catheter: An insight into the preoperative determinants of shunting efficacy

OBJECTIVES Although the efficacy of thoracoamniotic shunting (TAS) for fetal hydrothorax is well-recognized, the coexistence of hydrops fetalis is still a clinical challenge. The preoperative determinants of shunting efficacy are not fully understood. In this study, we aimed to investigate the perinatal and postnatal outcomes of hydrops fetalis with pleural effusion treated by TAS using a double-basket catheter, and to discuss the preoperative factors predictive of patients who will benefit from TAS. STUDY DESIGN We conducted a retrospective study in hydropic fetuses with pleural effusion treated by TAS between 2007 and 2015. We extracted information regarding postnatal survival and pretherapeutic sonographic findings, including skin-edema thickness, pleural-effusion pocket size, and Doppler readings. RESULTS Twelve subjects underwent TAS at a median gestational age of 29+5 weeks (range, 25+5-33+2 weeks). Skin edema disappeared or regressed in 7. Three experienced early neonatal death and the other 9 ultimately survived after a live birth at a median gestational age of 33+4 weeks (range, 29+1-38+2 weeks). All surviving children, except for 1, had a pretherapeutic pleural-effusion pocket greater than the precordial-edema thickness. All 3 children that died had precordial-edema thickness equal to or greater than the size of the pleural-effusion pocket. CONCLUSIONS We achieved a high survival rate (75%) using the double-basket technique. A greater pretherapeutic width of skin edema compared with the pleural-effusion pocket is possibly suggestive of a treatment-resistant condition and subsequent poor postnatal outcome.

Prenatal diagnosis of ring chromosome 13: a rare chromosomal aberration

Abstract We report the case of a 24-year-old Japanese woman, gravida 2, para 1, who became pregnant spontaneously. At 24 weeks of gestation, her fetus was found to have various abnormalities, including holoprosencephaly, congenital heart disease and severe fetal growth restriction, and she was referred to our hospital. From these findings, the fetus was suspected of having a chromosomal aberration, in particular, trisomy 13, and after genetic counseling, amniocentesis for chromosomal analysis was performed. Although the results of fluorescent in situ hybridization (FISH) analysis showed no numeric abnormalities, G-banding analysis revealed a ring chromosome 13; 46, XX, r (13) (p13q32). At 41 weeks of gestation, she delivered a female baby weighing 2240 g with good condition. The respiratory status of the neonate was stable, and she was discharged 30 days after birth. Ring chromosomes are rare chromosomal aberrations, and obstetricians should recognize that ring chromosomes cannot be detected solely by FISH analysis and require G-banding analysis and that information on the ring breakpoint is needed to counsel the parents regarding the fetal and neonatal prognosis.

Ductus venosus Doppler and the postnatal outcomes of growth restricted fetuses with absent end-diastolic blood flow in the umbilical arteries

OBJECTIVE We aimed to evaluate the outcomes of growth-restricted fetuses with absent end-diastolic velocity in the umbilical arteries (UA-AEDV), and investigate the relationship between Doppler flow velocity waveforms in the ductus venosus (DV) and the clinical features. MATERIALS AND METHODS This was a retrospective study of growth-restricted fetuses diagnosed with UA-AEDV delivered at our institution between 2013 and 2015. The time from diagnosis of UA-AEDV to delivery, postnatal survival, and developmental prognoses were the primary outcomes. The time lag between the occurrence of UA-AEDV and an abnormal increase in the DV pulsatility index (DV-PI) were investigated. We also examined the correlation between the DV-PI values immediately before birth and umbilical cord arterial pH at birth. RESULTS The median gestational age at birth among the 18 subjects was 28+2 (24+0-34+6) weeks, and the observation period between the first detection of UA-AEDV and delivery ranged from 0 to 35 days with a median of 8 days. Among the 18 infants, 15 (83%) survived, among whom 2 were diagnosed with a developmental disability. Gestational age at delivery was significantly lower in the poor outcome group. A positive correlation (correlation coefficient, 0.68) was observed between the umbilical artery pH and the last measured DV-PI. CONCLUSION The time interval from initial detection of UA-AEDV to delivery is highly variable, and it is reasonable to manage these growth-restricted fetuses with UA-AEDV expectantly with careful surveillance for fetal well-being. Specifically, Doppler DV analysis is clinically valuable for their evaluation.

Successful ex utero intrapartum treatment procedure for prenatally diagnosed severe micrognathia: A case report

We present a case of fetal severe micrognathia in which successful airway stabilization was achieved by an ex utero intrapartum treatment procedure. In this case, it was anticipated that the infant would have a vulnerable airway at birth based on in utero sonographic findings, including an extremely hypoplastic jaw, worsening polyhydramnios and absence of stomach visualization. Early sonographic recognition was helpful in preparing the parents and physicians for the possibility of airway emergencies during the perinatal period. When a severely hypoplastic mandible accompanied by polyhydramnios and absent stomach visualization is noted on ultrasound, clinicians should consider the indication for ex utero intrapartum treatment. A multidisciplinary team with technically skilled medical providers should be coordinated to perform the procedure.