Association between in vitro fertilization-embryo transfer and hearing loss: risk factors for hearing loss among twin infants in a cohort study.

Assisted reproductive technologies (ART), including in vitro fertilization-embryo transfer (IVF-ET) and intracytoplasmic sperm injection (ICSI), are known to contribute a higher risk of birth defects; however, studies have rarely evaluated the association between IVF-ET and diagnostic hearing loss (HL). This study aimed to evaluate the prevalence of and risk factors for HL and to clarify the association between IVF-ET and HL among twinborn infants. We enrolled 1860 live-born twin neonates born at a hospital in China from January 2017 to December 2020. After multi-step hearing screening, participants were diagnosed with HL by pediatric audiologists at 6 months of age. The prevalence of hearing loss and the adjusted odds ratios (AORs) for specific risk factors were estimated using generalized estimation equation (GEE) models in twin-born infants. Characteristics and prevalence of failure for hearing screening and HL were measured in IVF-ET twin infants. IVF-ET conception and preterm birth conferred a higher risk of hearing loss, with increased adjusted odds ratios (AOR [95% confidence intervals (CI)] IVF-ET: 2.82 [1.17-6.80], P = 0.021; preterm birth: 6.14 [2.30-16.40], P < 0.001) than the control group, respectively. Among the 1860 twin infants, more IVF-ET twins failed in dual-step hearing screening (3.26%) and were diagnosed with hearing loss (2.21%) than those conceived by spontaneous pregnancy. CONCLUSION: IVF-ET conception and premature birth were associated with a higher risk of hearing impairment. Twin infants conceived by IVF-ET tended to fail in hearing screening and be diagnosed with hearing loss. These observations provide a more comprehensive approach for the prevention and management of deafness in twin-born children. WHAT IS KNOWN: • IVF-ET technologies conferred a higher risk of birth defects. WHAT IS NEW: • Premature birth and IVF-ET conception were associated with a higher risk of hearing loss among twin infants. • Twin infants conceived by IVF-ET tended to fail in hearing screening and diagnosed with hearing loss.

Prenatal diagnosis of Wolf-Hirschhorn syndrome characterized by severe fetal growth restriction in three fetuses / 中华围产医学杂志

Objective:To analyze the prenatal clinical characteristics and genetic etiology of Wolf-Hirschhorn syndrome manifested by severe fetal growth restriction (FGR).Methods:Clinical data of three pregnant women admitted to Changsha Hospital for Maternal and Child Health Care from 2018 to 2020 due to severe FGR with or without other malformations diagnosed by prenatal ultrasound were collected. Amniotic fluid samples obtained by ultrasound-guided amniocentesis were analyzed by conventional G-banding staining technique and single nucleotide polymorphism array (SNP array). Parental peripheral blood cells were collected for SNP array to verify the source of variation.Results:(1) The karyotypes of both case 1 and 2 were normal, while case 3 had an abnormal karyotype of 46,XN,der(4)(9pter→9p23::4p15.31→4qter). (2) SNP array indicated a 7.8 Mb microdeletion in 4p16.3p16.1 cytoband in case 1 and a 5.5 Mb microdeletion in 4p16.3p16.2 cytoband in case 2, which were both de novo copy number variations. Case 3 harbored a 19.88 Mb deletion in 4p16.3p15.31 and a 10.89 Mb duplication in 9p24.3p23. (3) All three fetuses were diagnosed as Wolf-Hirschhorn syndrome, and their parents chose to terminate the pregnancies after genetic counseling. Conclusions:Considering the possibility of genetic disease, invasive prenatal diagnosis is suggested when prenatal ultrasonography showed severe FGR, regardless of other malformations, to clarify the cause and guide genetic counseling.

Biochemical and genetic characteristics of 40 neonates with carnitine deficiency / 中南大学学报(医学版)

OBJECTIVES@#Primary carnitine deficiency (PCD) is a rare fatty acid metabolism disorder that can cause neonatal death. This study aims to analyze carnitine levels and detect SLC22A5 gene in newborns with carnitine deficiency, to provide a basis for early diagnosis of PCD, and to explore the relationship between carnitine in blood and SLC22A5 genotype.@*METHODS@#A total of 40 neonates with low free carnitine (C0G (p.Y251C), c.495 C>A (p.R165E), and c.1298T>C (p.M433T). We found 14 PCD patients including 2 homozygous mutations and 12 heterozygous mutations, 14 with 1 mutation, and 12 with no mutation among 40 children. The C0 concentration of children with SLC22A5 gene homozygous or complex heterozygous mutations was (4.95±1.62) μmol/L in the initial screening, and (3.90±1.33) μmol/L in the second screening. The C0 concentration of children with no mutation was (7.04±2.05) μmol/L in the initial screening, and (8.02±2.87) μmol/L in the second screening. There were significant differences between children with homozygous or compound heterozygous mutations and with no mutation in C0 concentration of the initial and the second screening (both @*CONCLUSIONS@#There are 5 new mutations which enriched the mutation spectrum of SLC22A5 gene. C0<5 μmol/L is highly correlated with SLC22A5 gene homozygous or compound heterozygous mutations. Children with truncated mutation may have lower C0 concentration than that with untruncated mutation in the initial screening.