Prenatal Diagnosis of Complete Trisomy 9 With a Novel Sonographic Finding of Heart Calcification

Pruksanusak, Ninlapa; Rujirabanjerd, Sinitdhorn; Kanjanapradit, Kanet; Kor-anantakul, Ounjai; Suntharasaj, Thitima; Suwanrath, Chitkasaem; Hanprasertpong, Tharangrut; Pranpanus, Savitree

doi:10.7863/ultra.33.10.1871

Cited by 3 publications

(7 citation statements)

References 18 publications

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“…Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn syndrome, holoprosencephaly), congenital heart disease (most commonly ventricular septal defects), genitourinary anomalies (genital hypoplasia, cryptorchidism, cystic kidneys, hydronephrosis), and skeletal anomalies (dislocations, deformities). 1,3,4 The diagnosis of trisomy 9 is performed through the identification of chromosomal abnormalities in cells of patient suspected prior diagnosis of trisomy using cytogenetic or molecular techniques, such as cytogenetic analysis by G banding and fluorescence in situ hybridization (FISH). 2 In addition, published data show that ultrasound examination in the second quarter of prenatal care can show morphological changes in the baby that assist in the diagnosis of trisomy 9 and clinical management.…”

Section: Fetal Medicinementioning

confidence: 99%

“…The diagnosis of trisomy 9 exclusively by prenatal ultrasound is difficult since the sonographic findings are nonspecific, due to overlap with other trisomies, such as 18 and 13. 2,3 In context, the objective of the present study was to describe the phenotypic characteristics of a newborn with complete trisomy of chromosome 9.…”

Section: Fetal Medicinementioning

confidence: 99%

“…Most often, it is seen in mosaic form. [1][2][3] Mosaic and non-mosaic patients usually exhibit similar clinical features. However, both forms of trisomy 9 differ concerning survival.…”

Section: Introductionmentioning

confidence: 99%

“…Additionally, the cytogenetic is not performed in most abortions. 2,3 The features of trisomy 9 are mental and growth retardation, facial dismorphism (small ears, microphthalmia, bulbous nose, small mouth, high palate), central nervous system abnormalities (hydrocephalus, malformation, Dandy-Walker 2/5…”

Section: Introductionmentioning

confidence: 99%

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Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn

Moraes¹,

Bérgamo²,

Melo³

et al. 2019

Hum. Reprod. Arch.

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Objectives: To Describe the complete trisomy of chromosome 9 and morphological changes of the newborn. Methods: This case report described 47XX+9 in newborn of 19 year-old healthy primigesta, in Goiania, Brazil. Ultrasound was used in the 20th week of gestation to analyze multiple fetal malformations. Cytogenetic analysis (Bandage G) was used to identify the karyotype of the newborn and parents. Results: The cytogenetic analysis (G banding), showed that the fetus was female and had a 47,XX,+9 karyotype. The delivery was carried out by cesarean section at the 34th week. The evolution was unfavorable, baby survived for approximately 65 minutes and showed neonatal ocular hypertelorism, micrognathia, low ear implantation with pavilion auricle anomaly, ambiguous genitalia, spina bifida, and clubfoot. The analysis performed by chromosomal banding technique with umbilical cord lymphocytes culture showed of 47XX+9 karyotype in all 20 surveyed cells. Karyotyping of peripheral blood parents was realized but both not showed chromosomal changes. Conclusions: According to our knowledge, this is the second case of 47XX + 9 in Brazil and the detection of morphological changes caused by rare syndromes during pregnancy may help in diagnosis and appropriate clinical management because they direct families to genetic tests that can essential for the future of gestation.

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Section: Fetal Medicinementioning

confidence: 99%

Section: Fetal Medicinementioning

confidence: 99%

“…Most often, it is seen in mosaic form. [1][2][3] Mosaic and non-mosaic patients usually exhibit similar clinical features. However, both forms of trisomy 9 differ concerning survival.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn

Moraes¹,

Bérgamo²,

Melo³

et al. 2019

Hum. Reprod. Arch.

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“…] The majority of full and partial T9 end in spontaneous abortion. Clinical reports of partial T9 that show secondand third-trimester survival and postnatal outcomes have usually a variable amount of extra genetic material that correlates with the severity of the malformations or the phenotype [11][12][13][14][15][16][17]. We present the familiar case of a couple with two subsequent pregnancies affected by partial T9.…”

Section: Introductionmentioning

confidence: 99%

Partial trisomy 9: prenatal diagnosis and recurrence within same family

López-Félix

Flores-Gallegos

Garduño-Zarazúa³

et al. 2017

Clinical Case Reports

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Case report: A case report and literature review of complete trisomy 9

Xu,

Li,

Peng

et al. 2023

Front. Genet.

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Complete trisomy 9 is a rare and lethal chromosomal anomaly characterized by multisystem dysmorphism and central nervous system (CNS) malformations. This study presents a case of complete trisomy 9 with an unusual phenotypic association and investigates the genetic pathways involved in this chromosomal abnormality. Trisomy 9 leads to a wide range of organ abnormalities, and this research contributes to a better understanding of the phenotype associated with this rare aneuploidy. The literature on the phenotypes of fetuses with various systems affected by complete trisomy 9 was reviewed and summarized. Correct diagnosis and appropriate counseling based on the characteristics of previous reports of fetuses with trisomy 9 is essential in maternity care and clinical management. To provide guidance and help for clinical diagnosis, this study aimed to explore the clinical and genetic characteristics of trisomy 9 syndrome to improve clinicians’ understanding of the disease.

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Prenatal Diagnosis of Complete Trisomy 9 With a Novel Sonographic Finding of Heart Calcification

Cited by 3 publications

References 18 publications

Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn

Complete trisomy of chromosome 9: karyotyping and morphological alterations in newborn

Partial trisomy 9: prenatal diagnosis and recurrence within same family

Case report: A case report and literature review of complete trisomy 9

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