Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides ev...

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Published inNature medicine Vol. 29; no. 1; pp. 180 - 189
Main Authors Byrne, Alicia B, Arts, Peer, Ha, Thuong T, Kassahn, Karin S, Pais, Lynn S, O'Donnell-Luria, Anne, Babic, Milena, Frank, Mahalia S B, Feng, Jinghua, Wang, Paul, Lawrence, David M, Eshraghi, Leila, Arriola, Luis, Toubia, John, Nguyen, Hung, McGillivray, George, Pinner, Jason, McKenzie, Fiona, Morrow, Rebecca, Lipsett, Jill, Manton, Nick, Khong, T Yee, Moore, Lynette, Liebelt, Jan E, Schreiber, Andreas W, King-Smith, Sarah L, Hardy, Tristan S E, Jackson, Matilda R, Barnett, Christopher P, Scott, Hamish S
Format Journal Article
LanguageEnglish
Published United States Nature Publishing Group 01.01.2023
Nature Publishing Group US
Subjects
Abortion, Spontaneous - genetics
Autopsies
Autopsy
Death
Diagnosis
Female
Fetuses
Genetic counseling
Genetic disorders
Genetic screening
Genomic analysis
Genomics
Humans
Mortality
Perinatal Death - etiology
Phenotypes
Pregnancy
Prenatal Diagnosis
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Abstract Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies.
AbstractList Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies.
Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies.In a new study including 200 families who experienced perinatal death, adding genomic analyses to standard autopsies improved the identification of underlying pathogenic causes and informed genetic counseling.
Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies. In a new study including 200 families who experienced perinatal death, adding genomic analyses to standard autopsies improved the identification of underlying pathogenic causes and informed genetic counseling.
Abstract Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies.
Author Ha, Thuong T
Feng, Jinghua
Nguyen, Hung
Babic, Milena
Morrow, Rebecca
Eshraghi, Leila
Kassahn, Karin S
Liebelt, Jan E
Arts, Peer
Frank, Mahalia S B
Toubia, John
Arriola, Luis
Schreiber, Andreas W
McGillivray, George
Pais, Lynn S
Lawrence, David M
O'Donnell-Luria, Anne
Manton, Nick
Hardy, Tristan S E
Scott, Hamish S
Khong, T Yee
McKenzie, Fiona
Pinner, Jason
Moore, Lynette
Jackson, Matilda R
Wang, Paul
King-Smith, Sarah L
Byrne, Alicia B
Lipsett, Jill
Barnett, Christopher P
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/36658419$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
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Snippet Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who...
Abstract Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200...
Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who...
SourceID pubmedcentral
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crossref
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SourceType Open Access Repository
Aggregation Database
Index Database
StartPage 180
SubjectTerms Abortion, Spontaneous - genetics
Autopsies
Autopsy
Death
Diagnosis
Female
Fetuses
Genetic counseling
Genetic disorders
Genetic screening
Genomic analysis
Genomics
Humans
Mortality
Perinatal Death - etiology
Phenotypes
Pregnancy
Prenatal Diagnosis
Title Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
URI https://www.ncbi.nlm.nih.gov/pubmed/36658419
https://www.proquest.com/docview/2768952007/abstract/
https://search.proquest.com/docview/2768239122
https://pubmed.ncbi.nlm.nih.gov/PMC10333122
Volume 29
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