Prenatal counseling strategies for two cases with maternal uterine cavity abnormalities and misshapen fetal head detected in the third trimester / 中国实用妇科与产科杂志

OBJECTIVE:To discuss the clinical strategies of prenatal counseling in cases with abnormal maternal uterus cavity and misshapen fetal head detected in the third trimester.METHODS:The cases with both maternal uterus malforma⁃tion and ultrasound-diagnosed microcephaly only at the third trimester between 2016 and 2017 were reviewed and the postnatal development of the infants was followed up.RESULTS:A total of two cases were recruited and both cases showed normal fetal structure at the second trimester anomaly scan.One case was noted to have board thick fibromuscular adhe⁃sions band.The fetus was in breech presentation with limited fetal movement of the lower limbs.Amniocenetesis revealed normal karyotype of the fetus.At the 31 st week of the gestation,the fetus appeared to have elongated head with head cir⁃cumference(HC)at-2 SD level,protruding upper lip,and unilateral club foot.The other pregnant woman had complete uterine septum with fundus-located placenta and breech presentation.Her fetus had a HC below-4 SD whereas the dis⁃tance between the cranial bottom to top was 88 mm,with caput succedaneum and oligohydramnios.Magnetic resonance im⁃aging(MRI)showed normal structure and sulci gyrus development of the fetus.Both babies were born prematurely(at36 th and 31 st week)with birth weights compatible to their gestational ages,and both had an obviously misshapen head at birth.One baby also had unilateral club foot.The babies' appearance and development were totally normal at a follow-up examination at 6 months after birth.CONCLUSION:The prognosis of cases with uterine cavity abnormality and misshapen fetal head detected only at third trimester is usually good,but there is increased risk of malpresentation and preterm la⁃bor.Comprehensive assessment of the serial fetal growth conditions,maternal uterus abnormalities,and MRI are helpful in prenatal counseling.

Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia / 中国当代儿科杂志

CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using the QIAGEN Blood DNA Mini Kit; a highly specific PCR primer for CYP21A2 gene was designed according to the sequence difference between CYP2lA2 gene and its pseudogene; the whole CYP2lA2 gene was amplified with PrimeSTAR DNA polymerase (Takara), and the amplification product was directly sequenced to detect and analyze CYP2lA2 gene mutation. The child was clinically diagnosed with CAH (21-hydroxylase deficiency, 21-OHD) at the age of 36 days, and the case was confirmed by genetic diagnosis at the age of 1.5 years. The proband had a homozygous mutation at c.293-13C in the second intron of CYP21 gene, while the parents had heterozygous mutations. Early diagnosis and standard treatment of CAH (21-OHD) should be performed to prevent salt-wasting crisis and reduce mortality; bone aging should be avoided to increase final adult height (FAH), and reproductive dysfunction due to oligospermia in adulthood should be avoided. These factors are helpful for improving prognosis and increasing FAH. Investigating the molecular genetic mechanism of CAH can improve recognition and optimize diagnosis of this disease. In addition, carrier diagnosis and genetic counseling for the proband family are of great significance.

Cell-free fetal DNA detection in maternal plasma using real-time PCR and cycling probe technology for prenatal screening beta-thalassaemia major / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze cell-free fetal DNA in maternal plasma for prenatal screening of beta-thalassaemia major.</p><p><b>METHODS</b>Six couples undergoing prenatal diagnosis of beta-thalassaemia (gestational age range 23-26 weeks) were enrolled in this study. The husbands were all carriers of the CD17 (A-->T) mutation, and the wives carried another beta-thalassaemia mutation. The allele-specific primers and two fluorescent cycling probes were synthesized for the detection of the CD17 (A-->T) mutation, using FAM and HEX fluorescence labeling, respectively. The cell-free fetal DNA in the maternal plasma was detected using real-time PCR, and the fetal genotype was confirmed by cord blood conventional prenatal diagnosis.</p><p><b>RESULTS</b>In the 6 pregnancies, FAM and HEX fluorescent signals were detected in 3 maternal plasma samples; in the other 3 samples, only FAM fluorescent signals were detected, suggesting the absence of paternally derived CD17 (A-->T) mutation.</p><p><b>CONCLUSION</b>Examination of cell-free fetal DNA in maternal plasma using real-time PCR and cycling probe technology can be effective means for prenatal screening of beta-thalassaemia major.</p>