BackgroundProximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clinic. One is proximal symphalangism-1A (SYM1A), which is caused by genetic variants in Noggin (NOG), another is proximal symphalangism-1B (SYM1B), which is resulted from Growth Differentiation Factor 5 (GDF5) mutations.Case presentationHere, we reported a Chinese family with symphalangism of the 4th and/or 5th finger and moderate deafness. The proband was a 13-year-old girl with normal intelligence but symphalangism of the 4th finger in the left hand and moderate deafness. Hearing testing and inner ear CT scan suggested that the proband suffered from structural deafness. Family history investigation found that her father (II-3) and grandmother (I-2) also suffered from hearing loss and symphalangism. Target sequencing identified a novel heterozygous NOG mutation, c.690C > G/p.C230W, which was the genetic lesion of the affected family. Bioinformatics analysis and public databases filtering further confirmed the pathogenicity of the novel mutation. Furthermore, we assisted the family to deliver a baby girl who did not carry the mutation by genetic counseling and prenatal diagnosis using amniotic fluid DNA sequencing.ConclusionIn this study, we identified a novel NOG mutation (c.690C > G/p.C230W) by target sequencing and helped the family to deliver a baby who did not carry the mutation. Our study expanded the spectrum of NOG mutations and contributed to genetic diagnosis and counseling of families with SYM1A.
Giant placental chorioangiomas associated with fetal hyperdynamic circulation complications are rare to see. Here, we summarized a case of giant placental chorioangioma associated with fetal anemia and heart failure treated by radiofrequency ablation (RFA) combined with cordocentesis and intrauterine transfusion. The sonographic appearance of the placental chorioangioma was atypical which was isoechoic with unclear boundary. RFA was performed successfully at 27 weeks of gestation, when the chorioangioma has increased to 17.0 × 10.6 × 12.3 cm3. Unfortunately, intrauterine fetal demise was found on the first day after operation. After induction of labor, it was pathologically confirmed as placental chorioangioma.
BackgroundFetal atrial flutter (AF), accounting for 30% of all fetal tachyarrhythmias, predominantly (over 80%) manifests as a 2:1 atrioventricular conduction. Swift referral and timely intervention become imperative in instances of severe persistent arrhythmia.Case PresentationWe discuss the case of a 32‐year‐old multiparous Chinese woman, at 30+2 weeks of gestation, wherein an ultrasonographic examination revealed persistent fetal AF (atrial rate ranging from 219 to 445 beats/min and ventricular rate from 219 to 228 beats/min, with a 2:1 or 1:1 down transmission) and minor ascites. Despite the maternal ingestion of digoxin and sotalol, the fetal heart rhythm remained uncorrected. Following this, at 32+3 weeks of gestation, an intramuscular injection of cedilanid, guided by ultrasound, was administered to the fetus. Postoperatively, the fetal ventricular rate demonstrated a decline after 6 days, and the ascites resolved. Subsequently, at 33+3 weeks, a cesarean section was necessitated due to maternal intolerance to the medication, resulting in the delivery of the infant. Remarkably, the infant's cardiac rhythm spontaneously converted to sinus rhythm within 5 min of birth. A follow‐up conducted 1 year postpartum revealed no recurrence of AF.ConclusionsThis case illustrates that in the event of transplacental drug treatment failure, intrauterine therapeutic intervention should be considered. Moreover, it highlights the encouraging prognosis associated with fetal AF, as the cardiac rhythm spontaneously reverted to sinus rhythm postbirth in this instance.
Background: Fetal atrial flutter (AF) accounts for 30% of all fetal tachyarrhythmias, and more than 80% of fetal atrial flutter is 2:1 atrioventricular conduction. When a severe persistent arrhythmia occurs, intrauterine therapy is the first choice, and childbirth is not the first choice.
Case presentation: A 32-year-old Chinese multipara at 30+2 weeks of gestation whose ultrasonographic examination revealed fetal persistent atrial flutter (atrial rate 219-445 beats/min, ventricular rate 219-228 beats/min, 2:1 or 1:1 down transmission) and a small amount of ascites. The fetal heart rhythm did not recover even after oral administration of digoxin and sotalol to the gravida. At 32+3 weeks of gestation, the fetal intramuscular injection of celanide was administered under the guidance of ultrasound. The fetal ventricular rate decreased 6 days after operation and the ascites disappeared. At 33+3 weeks, due to the poor tolerance of the gravida to the drugs, the infant was delivered by cesarean section. 5 minutes after birth, the infant heart rhythm was spontaneously converted to sinus rhythm. Follow-up to 1 year after birth, the infant hasn't had atrial flutter.
Conclusions: In this case, the fetal heart rhythm automatically reverted to sinus rhythm after birth which appears that when the transplacental drug treatment failed, intrauterine treatment of the drug should be considered. And the prognosis of fetal atrial flutter is optimistic.
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