PDF(Pubmed)
Abstract：
A female, term neonate, born via vaginal delivery to a G5P1D1A3 hypothyroid mother with a history of an elder sibling being homozygous for HSD17B4 mutation, diagnosed while working up his progressive neurological disorder and succumbing to the same. The family screening revealed that both parents were heterozygous carriers of the same mutation in the gene HSD17B4 After genetic counselling, amniocentesis revealed the fetus to be having homozygosity for the same mutation. In view of precious pregnancy, normal antenatal scans and investigations, the pregnancy was continued, and baby was born with a birth weight of 2.65 kg and had a smooth perinatal transition. Parents were counselled regarding the course of the illness, possible complications and the need for regular follow-up. Ultrasound of the abdomen, pelvis and head was normal in the neonatal period. She was vaccinated as per the national schedule and gaining weight normally.
摘要：
一个女人,学期新生儿，通过阴道分娩出生的G5P1D1A3甲状腺功能减退的母亲，有一个年长的兄弟姐妹是HSD17B4突变纯合的历史，在治疗他的进行性神经系统疾病并屈服于同样的疾病时被诊断出来。家系筛查显示，父母双方都是HSD17B4基因相同突变的杂合携带者。羊膜穿刺术显示胎儿具有相同突变的纯合性。鉴于珍贵的怀孕，正常的产前扫描和调查，怀孕仍在继续，婴儿出生时体重为2.65公斤，围产期过渡平稳。父母被告知病情，可能的并发症和需要定期随访。腹部超声检查,新生儿期骨盆和头部正常。她按照国家时间表接种了疫苗，体重正常增加。
