Hanoi Medical University, Hanoi, Viet Nam.
Quang Ninh Hospital for Obstetric and Pediatric, Quang Ninh, Viet Nam.
Taiwan J Obstet Gynecol. 2021 Sep;60(5):907-910. doi: 10.1016/j.tjog.2021.07.022.
MCPH (microcephaly primary hereditary) is a group of autosomal recessive developmental disorders with microcephaly present at birth and intellectual disability. Since a second trimester ultrasound is not able to detect subtypes with minimal prenatal presentations, only prenatal diagnosis by genetic testing can confirm these cases and allow for effective genetic counseling, especially a family with a previously affected child.
A 37-year-old women was pregnant for the third time and had two prior children with profound microcephaly and mental retardation. Targeted panel sequencing identified novel compound heterozygous ASPM pathogenic variants: c.1615_1616del (p. Glu539ArgfsTer15); c.∗293T > A (p. Leu98Ter), which confirmed the diagnosis of MCPH5 (#OMIM 608716). Genetic testing was conducted for family members and applied on prenatal diagnosis.
This is the first cases of MCPH5 to be reported in Vietnam and the genetic result aided in prenatal diagnosis of a high-risk pregnancy. The study highlights the importance of genetic testing in defining definitive diagnosis which allowed for timely prenatal diagnosis and genetic counseling for the family.
MCPH（小头畸形原发性遗传）是一组常染色体隐性发育障碍，出生时存在小头畸形和智力障碍。由于中孕期超声无法检测到表现轻微的亚型，只有通过基因检测进行产前诊断才能确认这些病例，并进行有效的遗传咨询，尤其是有先前受影响孩子的家庭。
一名 37 岁妇女第三次怀孕，此前有两个孩子患有严重的小头畸形和智力障碍。靶向panel 测序鉴定出 novel compound heterozygous ASPM 致病性变异：c.1615_1616del(p.Glu539ArgfsTer15); c.∗293T>G(p.Leu98Ter)，证实了 MCPH5 的诊断（#OMIM 608716）。对家庭成员进行了基因检测，并应用于产前诊断。
这是越南首例 MCPH5 病例报告，基因检测结果有助于对高危妊娠进行产前诊断。该研究强调了基因检测在明确诊断中的重要性，从而能够及时进行产前诊断和为家庭提供遗传咨询。
