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Frontiers in Genetics 2024To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome.
PURPOSE
To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome.
METHODS
We retrospectively reviewed 46 singleton pregnancies with anomalies in the urinary system who underwent amniocentesis from Feb 2022 to October 2023 in the Prenatal Diagnosis Center of Lianyungang Maternal and Child Health Hospital. These fetuses were subjected to chromosomal microarray analysis (CMA) and/or trio whole-exome sequencing (Trio-WES). We specifically evaluated these cases' prenatal renal ultrasound findings and clinical characteristics of the affected parents.
RESULTS
Three fetuses were diagnosed as 17q12 microdeletions, and the detection rate was 6.5% in fetuses with anomalies in the urinary system (3/46). The heterogeneous deletions range from 1.494 to 1.66 Mb encompassing the complete hepatocyte nuclear factor 1 homeobox B () gene. Fetuses with 17q12 deletion exhibited varied renal phenotypes. Moreover, the clinical phenotypes of the affected parents differed greatly in the two cases (case 2 and case 3) in which the deletion was inherited. For case 3, the mother manifested classic symptoms of 17q12 deletion syndrome as well as unreported characteristics, such as very high myopia.
CONCLUSION
Our findings demonstrate the necessity and significance of offering prenatal genetic testing when various renal anomalies are detected. In addition, our study broadens the phenotypic spectrum of 17q12 deletions. Most importantly, our findings may allow timely supportive genetic counseling and guidance for pregnancy in affected families, e.g., with the help of preimplantation genetic testing (PGT).
PubMed: 38957807
DOI: 10.3389/fgene.2024.1401315 -
Scientific Reports Jul 2024The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the...
The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the severity, whether in complexity or lethality, significantly influences parental decisions concerning abortion. However, questions remain as to how fetal heart disease severity impacts parental decisions, given recent advancements in postsurgical outcomes. Therefore, we investigated risk factors associated with parents' decision-making regarding abortion following a prenatal diagnosis of fetal heart disease. Our analysis included 73 (terminated: n = 37; continued: n = 36) pregnancies with a fetal heart disease diagnosed before 22 weeks of gestation. Increased gestational age at diagnosis reduced the likelihood of parents' decision on termination (Model 1: adjusted odds ratio, 0.94; 95% confidence interval 0.89-0.99; Model 2: 0.95 0.90-0.997). Critical disease (5.25; 1.09-25.19) and concurrent extracardiac or genetic abnormalities (Model 1: 4.19, 1.21-14.53; Model 2: 5.47, 1.50-19.96) increased the likelihood of choosing abortion. Notably, complex disease did not significantly influence parental decisions (0.56; 0.14-2.20). These results suggest that parental decision-making regarding abortion may be influenced by earlier gestational age at diagnosis, the lethality of heart disease, and extracardiac or genetic abnormalities, but not its complexity if prenatal diagnosis and parental counseling are provided at a cardiovascular-specialized facility.
Topics: Humans; Female; Pregnancy; Abortion, Induced; Decision Making; Adult; Parents; Prenatal Diagnosis; Gestational Age; Heart Defects, Congenital; Heart Diseases; Risk Factors; Fetal Diseases; Male; Severity of Illness Index
PubMed: 38956291
DOI: 10.1038/s41598-024-66027-8 -
Archives of Gynecology and Obstetrics Jul 2024This is a retrospective comparative study. We aimed to analyze the results of karyotype and chromosomal microarray analysis (CMA) of amniotic fluid across different...
PURPOSE
This is a retrospective comparative study. We aimed to analyze the results of karyotype and chromosomal microarray analysis (CMA) of amniotic fluid across different gestational weeks and evaluate the clinical value in prenatal diagnosis, particularly in the late pregnancies.
METHODS
Samples from 580 pregnant women of 18-23 weeks of gestation (mid-gestation group) and 196 pregnant women of 24-32 weeks of gestation (late group) were performed both standard G-band karyotype analysis and CMA.
RESULTS
Among the 580 pregnant women in the routine group, the most common indications were positive Down's screening (213/580, 36.7%), followed by advanced maternal age (196/580, 33.8%); while fetal structural anomalies on ultrasonography were the top reason for amniocentesis in the late group (56/196, 28.6%). In the routine group, the total detection rate was 12.1% (70/580), of which 4.1% (24/580) were identified by karyotype analysis and 11.2% (65/580) by CMA. The total detection rate was 15.3% (30/196) in the late group, of which 5.1% (10/196) were detected by karyotype analysis, and 14.3% (28/196) by CMA.
CONCLUSION
Karyotype analysis and CMA are complementary in detecting chromosomal abnormalities. Amniotic cavity puncture in the karyotype analysis in 18-23 weeks of gestation and 24-32 weeks of gestation is safe and effective, more obvious effect on the latter.
PubMed: 38955819
DOI: 10.1007/s00404-024-07602-2 -
Zhonghua Er Ke Za Zhi = Chinese Journal... Jul 2024
Topics: Humans; Child; Female; Male; Peripheral Nervous System Diseases
PubMed: 38955689
DOI: 10.3760/cma.j.cn112140-20240107-00027 -
Child's Nervous System : ChNS :... Jul 2024Teratoma is the most common congenital tumor, but the orbital location is rare. It is composed of tissues from ectoderm, mesoderm, and endoderm. (Review)
Review
INTRODUCTION
Teratoma is the most common congenital tumor, but the orbital location is rare. It is composed of tissues from ectoderm, mesoderm, and endoderm.
CLINICAL PRESENTATION
Congenital orbital teratoma commonly presents as unilateral proptosis, with rapid growth, leading to exposure keratopathy.
DIAGNOSIS
Prenatal ultrasound may detect the orbital mass, computed tomography (CT) scans, and magnetic resonance (MR) imaging are better in demonstrating multilocular cystic and solid mass, without bone erosion. Laboratory tests should include alfa-fetoprotein (AFP) and B-human chorionic gonadotropin (B-HCG), and histopathologically, it contains all three germ cell layers components. The management is surgical removal of the lesion, the mature teratoma has a benign behavior, and the immature has a poor prognostic. We describe a rare case of congenital orbital teratoma with intracranial extension of the lesion, in which was treated with orbital exenteration. After surgery, AFP levels decreased, the middle face displacement has improved and development milestones were appropriate.
PubMed: 38953912
DOI: 10.1007/s00381-024-06510-9 -
The Journal of Obstetrics and... Jul 2024A 35-year-old woman (gravida 1, para 0) was admitted to our hospital at 28 weeks' gestation with vaginal bleeding from placenta previa. Severe fetal bradycardia was...
A 35-year-old woman (gravida 1, para 0) was admitted to our hospital at 28 weeks' gestation with vaginal bleeding from placenta previa. Severe fetal bradycardia was observed during fetal heart rate monitoring. Ultrasonography showed widely dilated veins on the fetal surface of the placenta and an extraordinarily low umbilical artery peak systolic velocity in the Doppler study. Umbilical cord torsion was suspected. On the subsequent day, we performed a cesarean section due to worsening fetal heart rate patterns. Umbilical artery blood gas analysis indicated severe acidemia (pH 7.063), and umbilical cord torsion was confirmed at the placental cord insertion site. Diagnosing UCT prenatally is challenging; however, it can be suspected by scanning for the widely dilated veins on the fetal placental surface, termed as the "Sunset Sign," an abnormally low umbilical artery peak systolic velocity, and other fetal Doppler abnormalities.
PubMed: 38953213
DOI: 10.1111/jog.16013 -
Clinical, Cosmetic and Investigational... 2024Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that influences structures of ectodermal origin, such as teeth, hair, and sweat glands. Compared with...
INTRODUCTION
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that influences structures of ectodermal origin, such as teeth, hair, and sweat glands. Compared with autosomal recessive and dominant modes of inheritance, the X-linked HED (XLHED) characterized by Hypodontia/Oligodontia teeth, Absent/sparse hair, Anhidrosis/hypohidrosis, and characteristic facial features, is the most frequent and its primary cause is the mutation of ectodysplasin A (EDA) gene. This research aimed to expound the clinical and molecular features of a Chinese male with XLHED and to summarize and compare several previous findings.
METHODS
Genomic DNA was obtained from the peripheral blood of the proband and his family members, then Sanger sequencing was used to perform a mutational analysis of . Real-time quantitative PCR and Western blotting were used to detect EDA expression. The transcriptional activity of NF-κB was detected using a luciferase assay.
RESULTS
The probandwith XLHED was identified a novel mutation, c.1119G>C(p.M373I), that affected the molecular analysis of transmembrane protein exon8 mutations, inherited from the mother. He showed a severe multiple-tooth loss, with over 20 permanent teeth missing and sparse hair and eyebrows, dry, thin, and itching skin. Furthermore, his sweating function was abnormal to a certain extent.
DISCUSSION
The functional study showed that this novel mutant led to a significant decrease in the EDA expression level and transcriptional activity of NF-κB. Our findings extend the range of mutations in XLHED patients, which provides the basis and idea for further exploring the pathogenesis of XLHED.
PubMed: 38952411
DOI: 10.2147/CCID.S451125 -
Frontiers in Endocrinology 2024We present the case of a 36-year-old female who was diagnosed at birth with CHI that caused severe hypoglycaemia unresponsive to Diazoxide. Subtotal pancreatectomy was...
We present the case of a 36-year-old female who was diagnosed at birth with CHI that caused severe hypoglycaemia unresponsive to Diazoxide. Subtotal pancreatectomy was performed at the age of three weeks. Later, histological analysis of her pancreas in a research setting revealed a focal form of CHI. Genetic testing was not available at that time. The patient developed pancreatic exocrine deficiency and insulin-dependent diabetes at the age of 9 years. In 2016, a genetic test revealed a missense heterozygous variant in the ABCC8 gene inherited from her father and classified as having a recessive inheritance. The geneticist concluded that the risk of CHI for her offspring would be low (1/600), making pregnancy favourable. As there was no consanguinity in the family, testing the future father was deemed unnecessary (carrier frequency 1/150 in the general population). The pregnancy occurred spontaneously in 2020 and at a gestational age of 28 weeks, the mother went into premature labour. An emergency C-section was performed in April 2021 resulting in the birth of bichorial bi-amniotic male twins. Following birth, both newborns experienced persistent severe hypoglycaemia which required glucagon treatment and intravenous glucose infusion initially, followed by Diazoxide from day 51 after birth, without satisfactory response. Continuous intravenous Octreotide treatment was introduced on day 72. Due to the recurrence of hypoglycaemia episodes despite reaching maximum doses of Octreotide, from day 92 the treatment was switched to Pasireotide. Genetic tests revealed the same genotypes for both infants: the exon 39 missense variant (c.4716C>A; p.Ser1572Arg) inherited from their mother and a truncating variant in exon 28 (c.3550del; p.Val1184*), inherited from their asymptomatic father. As a result of inheriting two recessive variants of the ABCC8 gene, the children were diagnosed with a diffuse form of CHI, consistent with the diazoxide-unresponsive presentation. This situation is very rare outside consanguinity. This case emphasises the significance of genetic counselling for individuals with a history of rare diseases outside the context of consanguinity, as there is a potential risk of recurrence. Prenatal diagnosis can lead to better outcomes for affected neonates, as well as help families make informed decisions about future pregnancies.
Topics: Humans; Female; Congenital Hyperinsulinism; Pregnancy; Adult; Infant, Newborn; Sulfonylurea Receptors; Male; Twins, Dizygotic
PubMed: 38952388
DOI: 10.3389/fendo.2024.1408003 -
Veterinary Medicine and Science Jul 2024Cynomolgus monkeys (Macaca fascicularis) are essential in biomedical research, including reproductive studies. However, the application of human estimated foetal weight... (Comparative Study)
Comparative Study
Application of ultrasonographic human estimated foetal weight formulas to cynomolgus monkeys (Macaca fascicularis) at 129-132 days of gestation: A comparative study of estimated and actual birthweight.
BACKGROUND
Cynomolgus monkeys (Macaca fascicularis) are essential in biomedical research, including reproductive studies. However, the application of human estimated foetal weight (EFW) formulas using ultrasonography (USG) in these non-human primates is not well established.
OBJECTIVES
This study aims to evaluate the applicability of human EFW formulas for estimating foetal weight in cynomolgus monkeys at approximately 130 days of gestation.
METHODS
Our study involved nine pregnant cynomolgus monkeys. We measured foetal parameters, including biparietal diameter, head circumference, abdominal circumference and femur length using USG. The EFW was calculated using 11 human EFW formulas. The actual birthweight (ABW) was recorded following Cesarean section, the day after the EFW calculation. For comparing EFW and ABW, we employed statistical methods such as mean absolute percentage error (APE) and Bland-Altman analysis.
RESULTS
The ABW ranged between 200.36 and 291.33 g. Among the 11 formulas, the Combs formula showed the lowest APE (4.3%) and highest correlation with ABW (p < 0.001). Notably, EFW and ABW differences for the Combs formula were ≤5% in 66.7% and ≤10% in 100% of cases. The Bland-Altman analysis supported these results, showing that all cases fell within the limits of agreement.
CONCLUSIONS
The Combs formula is applicable for estimating the weight of cynomolgus monkey fetuses with USG at approximately 130 days of gestation. Our observations suggest that the Combs formula can be applied in the prenatal care and biomedical research of this species.
Topics: Animals; Macaca fascicularis; Female; Birth Weight; Fetal Weight; Pregnancy; Ultrasonography, Prenatal; Humans
PubMed: 38952271
DOI: 10.1002/vms3.1521 -
Pediatric Blood & Cancer Jul 2024Hepatoblastoma (HB) is a rare liver tumour, and its congenital counterpart (CHB) is even less frequent. CHB has a clinically challenging management and a generally... (Review)
Review
Hepatoblastoma (HB) is a rare liver tumour, and its congenital counterpart (CHB) is even less frequent. CHB has a clinically challenging management and a generally perceived worse outcome. This study aims to review the literature on CHB to better define presentation, diagnosis, available treatments and management options. The analysis of outcomes suggests that a significant portion of mortality is unrelated to the malignant nature of the tumour. Key factors influencing overall outcomes were identified: mortality linked to the 'mass effect' during both the prenatal (22%) and perinatal (32%) stages, as well as 'oncological' mortality encompassing tumour and/or treatment-related factors (46%). Overall, after birth, CHB does not seem to confer a worse oncological prognosis per se, and should be managed similarly to older children, if patients are stable enough to undergo proper staging and treatment. A deeper knowledge and better outcomes would come from a large, homogeneous, collection of data possibly allowing a global protocol, focusing on a comprehensive management of CHB.
PubMed: 38952263
DOI: 10.1002/pbc.31132