We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.

OBJECTIVE: To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy. METHODS: Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration. RESULTS: Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q. CONCLUSION The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.
Chromosomes, Human, Pair 4 ; genetics ; Chromosomes, Human, Pair 6 ; genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic ; Wolf-Hirschhorn Syndrome ; genetics

Objective To analyze the genotype-phenotype correlation in fetal skeletal dysplasia,and to investigate the methods of prenatal diagnosis and genetic counseling.Methods From May 2016 to November 2017,three gravidas whose fetuses were diagnosed with short stature homeobox (SHOX) gene deficiency were recruited from those receiving invasive prenatal diagnosis and single nucleotide polymorphismarray (SNP-array) due to fetal structural abnormalities detected by prenatal ultrasound scan in Shanghai First Maternity and Infant Hospital,Tongji University School of Medicine.Fetus 1 and 3 were singleton pregnancies and fetus 2 was twin pregnancy.Amniotic fluid cells were isolated and analyzed by karyotyping and SNP-array.Peripheral blood samples were collected from their parents and also analyzed by SNP-array.Results All three fetuses were diagnosed with fetal skeletal dysplasia based on second trimester ultrasound findings showing the lengths of femora,humeri,tibiae,fibulae,ulnae and radii length below the 5th percentile of corresponding gestational age.Karyotypes of the three fetuses were normal.SNP-array examination showed that each case had 1 to 2.5 Mb deletion in the pseudoautosomal region of the short arms of sex chromosomes,including SHOX gene.Their skeletal dysplasia were all caused by SHOX haploinsufficiency.Microdeletions of fetus 1 and 3 were inherited from their mothers,while that of fetus 2 was inherited from the father.After genetic counseling,two singleton gravidas decided to terminate their pregnancies and the twin pregnant one underwent selective reduction.Conclusion Prenatal ultrasound,in combination with SNP-array,offers fast and efficient detection of fetal skeletal dysplasia due to SHOX gene deficiency.

China prospective multicenter birth cohort (Prospective Omics Health Atlas birth cohort, POHA birth cohort) study was officially launched in 2022. This study, in collaboration with 12 participating units, aims to establish a high-quality, multidimensional cohort comprising 20 000 naturally conceived families and assisted reproductive families. The study involves long-term follow-up of parents and offspring, with corresponding biological samples collected at key time points. Through multi-omics testing and analysis, the study aims to conduct multi-omics big data research across the entire maternal and infant life cycle. The goal is to identify new biomarkers for maternal and infant diseases and provide scientific evidence for risk prediction related to maternal diseases and neonatal health.

Using digital technologies in concurrently performing missing tooth implantation and preparation of remaining teeth is a solution to reduce the number of visits and improve efficiency. This paper proposes a digital process for simultaneously implanting and preparing teeth. It integrates implant surgical guide and 3D-printed tooth preparation guide into a single guide and completes guided implant placement and precise tooth preparation. Based on "repair-oriented" virtual implant planning, the implant surgical guide can improve the efficiency and predictability of implant placement, and its linear accuracy is about 1 mm. The tooth preparation guide precisely guides tooth preparation and restoration space visualization, ensuring the quality of the tooth preparation. The two guides have different design accuracy requirements, and thus their combination improves the overall guiding accuracy requirements. The concurrent application of the two guides minimizes the clinical operation time, number of visits, and economic burden of patients.
Humans ; Surgery, Computer-Assisted ; Dental Implantation, Endosseous ; Printing, Three-Dimensional ; Technology ; Tooth Preparation ; Computer-Aided Design ; Dental Implants ; Imaging, Three-Dimensional ; Cone-Beam Computed Tomography