Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease

Springer, Stephanie; Karner, Eva; Worda, Christof; Grabner, Maria Magdalena; Seidl-Mlczoch, Elisabeth; Laccone, Franco; Neesen, Jürgen; Scharrer, Anke; Ulm, Barbara

doi:10.3390/life12081223

Cited by 3 publications

(3 citation statements)

References 27 publications

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“…In the cases of IUFD, these events occurred only in the third trimester but all between 30 and 35 weeks of gestation, which was also reported in previous studies 13,19 . Previous studies reported IUFD in 10%–12% of ongoing pregnancies in trisomy 21 fetuses 33,34 . This is similar to the rates observed in our prenatal cohort with IUFD in 13.3% (2/15) of the ongoing pregnancies with trisomy 21.…”

Section: Discussionsupporting

confidence: 90%

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Congenital small bowel obstruction: Prenatal detection and outcome

Heinrich,

Pijpers,

Linskens

et al. 2023

Prenatal Diagnosis

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ObjectiveTo evaluate and compare the outcome of fetuses and neonates with congenital small bowel obstructions (SBO), evaluate the screening performance of prenatal ultrasound for SBO and identify possible risk factors for adverse outcomes.MethodsAll cases referred to the Amsterdam University Medical Centers between 2007 and 2021 for a prenatal suspected SBO, supplemented by cases of postnatal diagnosis of SBO, were included. The primary outcome was survival after 24 weeks of gestation until the first year of life.Results147 cases of SBO were included with a survival rate of 86.2% (119/138) after 24 weeks of gestation until the first year of age. Additional structural or chromosomal anomalies were found to have an increased risk of adverse outcomes. Intrauterine fetal demise occurred in 10/147 (6.8%) cases and 9/147 (6.1%) cases died during postnatal follow‐up. The overall positive predictive value of all prenatally diagnosed cases was 91.5%. Surgical correction was performed in 123/128 (96.0%) of the live‐born cases.ConclusionsCongenital SBO has an overall favorable prognosis, but the outcome is negatively impacted by the possible presence of additional structural or chromosomal anomalies. Fetal monitoring in the early third trimester should be considered, since all cases of Intrauterine fetal demise occurred between 30 and 35 weeks of gestation.

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Section: Discussionsupporting

confidence: 90%

“…13,19 Previous studies reported IUFD in 10%-12% of ongoing pregnancies in trisomy 21 fetuses. 33,34 This is similar to the rates observed in our prenatal cohort with IUFD in 13.3% (2/15) of the ongoing pregnancies with trisomy 21. This finding emphasizes the possible association between trisomy 21 and stillbirth.…”

Section: Discussionsupporting

confidence: 88%

Congenital small bowel obstruction: Prenatal detection and outcome

Heinrich,

Pijpers,

Linskens

et al. 2023

Prenatal Diagnosis

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“…2 These data have remained consistent since the introduction of noninvasive prenatal screening. [3][4][5][6][7] However, data on the incidence of abortions performed for fetal indication in the United States are limited, because this information is not collected at the state or national level.…”

mentioning

confidence: 99%

Implications for Prenatal Genetic Testing in the United States after the Reversal of Roe v Wade

Raymond

Barbera

Boudova

et al. 2023

Obstetrics &Amp; Gynecology

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The purpose of this chapter is to protect unborn human life and maternal health within present constitutional limits. It reaffirms the tradition of the state of North Dakota to protect every human life whether unborn or aged, healthy or sick. 14-02.1-02. Definitions.As used in this chapter: 1. "Abortion" means the act of using or prescribing any instrument, medicine, drug, or any other substance, device, or means with the intent to terminate the clinically diagnosable intrauterine pregnancy of a woman, including the elimination of one or more unborn children in a multifetal pregnancy, with knowledge that the termination by those means will with reasonable likelihood cause the death of the unborn child. Such use, prescription, or means is not an abortion if done with the intent to: a. Save the life or preserve the health of the unborn child; b. Remove a dead unborn child caused by spontaneous abortion; or c. Treat a woman for an ectopic pregnancy. 2. "Abortion facility" means a clinic, ambulatory surgical center, physician's office, or any other place or facility in which abortions are performed or prescribed, other than a hospital. 3. "Abortion-inducing drug" means a medicine, drug, or any other substance prescribed or dispensed with the intent of causing an abortion. 4. "Down syndrome" refers to a chromosome disorder associated with an extra chromosome twenty-one, in whole or in part, or an effective trisomy for chromosome twenty-one. 5. "Drug label" means the pamphlet accompanying an abortion-inducing drug which outlines the protocol tested and authorized by the federal food and drug administration and agreed upon by the drug company applying for the federal food and drug administration authorization of that drug. Also known as "final printing labeling instructions", drug label is the federal food and drug administration document that delineates how a drug is to be used according to the federal food and drug administration approval. 6. "Fertilization" means the fusion of a human spermatozoon with a human ovum. 7. "Genetic abnormality" means any defect, disease, or disorder that is inherited genetically. The term includes any physical disfigurement, scoliosis, dwarfism, Down syndrome, albinism, amelia, or any other type of physical or mental disability, abnormality, or disease. 8. "Hospital" means an institution licensed by the department of health and human services under chapter 23-16 and any hospital operated by the United States or this state. 9. "Human being" means an individual living member of the species of homo sapiens, including the unborn human being during the entire embryonic and fetal ages from fertilization to full gestation. 10. "Infant born alive" means a born child which exhibits either heartbeat, spontaneous respiratory activity, spontaneous movement of voluntary muscles or pulsation of the umbilical cord if still attached to the child. 11. "Informed consent" means voluntary consent to abortion by the woman upon whom the abortion is to be performed or induced provided: a. The woman is told the...

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Discovery of BMP10 as a new gene underpinning congenital heart defects

Dong

2024

Am J Transl Res

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Objective: Aggregating evidence convincingly establishes the predominant genetic basis underlying congenital heart defects (CHD), though the heritable determinants contributing to CHD in the majority of cases remain elusive. In the current investigation, BMP10 was selected as a prime candidate gene for human CHD mainly due to cardiovascular developmental abnormalities in Bmp10-knockout animals. The objective of this retrospective study was to identify a new BMP10 mutation responsible for CHD and characterize the functional effect of the identified CHD-causing BMP10 mutation. Methods: Sequencing assay of BMP10 was fulfilled in a cohort of 276 probands with various CHD and a total of 288 non-CHD volunteers. The available family members from the proband harboring an identified BMP10 mutation were also BMP10-genotyped. The effect of the identified CHD-causative BMP10 mutation on the transactivation of TBX20 and NKX2.5 by BMP10 was quantitatively analyzed in maintained HeLa cells utilizing a dual-luciferase reporter assay system. Results: A novel heterozygous BMP10 mutation, NM_014482.3:c.247G>T;p.(Glu83*), was identified in one proband with patent ductus arteriosus (PDA), which was confirmed to co-segregate with the PDA phenotype in the mutation carrier's family. The nonsense mutation was not observed in 288 non-CHD volunteers. Functional analysis unveiled that Glu83*-mutant BMP10 had no transactivation on its two representative target genes TBX20 and NKX2.5, which were both reported to cause CHD. Conclusion: These findings provide strong evidence indicating that genetically compromised BMP10 predisposes human beings to CHD, which sheds light on the new molecular mechanism that underlies CHD and allows for antenatal genetic counseling and individualized precise management of CHD.

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Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease

Cited by 3 publications

References 27 publications

Congenital small bowel obstruction: Prenatal detection and outcome

Congenital small bowel obstruction: Prenatal detection and outcome

Implications for Prenatal Genetic Testing in the United States after the Reversal of Roe v Wade

Discovery of BMP10 as a new gene underpinning congenital heart defects

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