Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound

Abstract

Objective: We present prenatal diagnosis of a de novo 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound. Case report: A 32-year-old woman underwent amniocentesis at 28 weeks of gestation because of fetal micrognathia and bilateral pyelectasis on prenatal ultrasound. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 19q13.42q13.43 (55,028,722–56,680,564) × 1.0 [GRCh37 (hg19)] or a 1.651-Mb microdeletion encompassing 44 Online Mendelian Inheritance in Man (OMIM) genes including NLRP7, GP6, TNNT1, TNNI3 and DNAAF3. The parents did not have such a deletion and decided to continue the pregnancy. At 37 weeks of gestation, a 2560-g female baby was delivered by cesarean section because of oligohydramnios and decreased fetal movements. The baby manifested cleft palate, micrognathia and retrognathia at birth. She was doing well at age three months. Her body weight was 5.3 Kg (15th–25th centile), and body length was 59.2 cm (25th-50th centile). Renal sonogram showed bilateral mild pelvic dilation. She manifested no psychomotor retardation and no other internal organ abnormalities during pediatric follow-ups. Conclusion: A 19q13.42-q13.43 microdeletion can be associated with micrognathia, retrognathia, cleft palate and bilateral pyelectasis at birth.

Keywords

• 19q13.42-q13.43 microdeletion
• Micrognathia
• Prenatal diagnosis
• Pyelectasis
• Retrognathia