• Clinical and Experimental Pediatrics
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• v.65 no.3
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• pp.131-135
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• 2022

Purpose: There is inconsistent evidence about the association between fetal nuchal cord and the risk of autism spectrum disorder (ASD). We performed a meta-analysis to investigate whether fetal nuchal cord is associated with an increased risk of ASD in offspring. Methods: Three main English databases were searched until January 2021. The Newcastle-Ottawa Scale was used to assess study quality. Study heterogeneity was determined using the I 2 statistic, while publication bias was assessed using Begg and Egger tests. Results are presented as odds ratios (ORs) and relative ratios with 95% confidence intervals (CI) and were determined by a random-effects model. Results: Five articles (1 cohort, 4 case-control; 3,088 total children) were included in the present meta-analysis. Fetal nuchal cord was not a risk factor for ASD (OR, 1.11; 95% CI, 0.66-1.57). There was homogeneity among studies that reported a risk of ASD (I²=0.0%). Conclusion: Our results showed that fetal nuchal cord is not a risk factor for ASD. Future large cohort studies should confirm this finding.

• Neonatal Medicine
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• v.28 no.3
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• pp.133-138
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• 2021

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.