Clinical indications and detection efficiency of non-invasive prenatal testing in 13 041 cases from Jiangsu Province, China / 中华围产医学杂志

Objective To determine the clinical indications and detection efficiency of non-invasive prenatal testing (NIPT) in Jiangsu Province, China. Methods A total of 13 041 pregnant women from nine hospitals in Jiangsu Province who voluntarily accepted NIPT for chromosome 13, 18, 21 and sex chromosome from January 1, 2012 to December 31, 2013 were analyzed retrospectively. All cases were singleton pregnancies and spontaneously conceived. Invasive prenatal diagnosis followed by fetal chromosome karyotype analysis was recommended in high-risk women following NIPT. The clinical indications and positive predictive value of NIPT were conducted. Results NIPT detected 88, 19, 9 and 64 cases at high risk for trisomy 21, trisomy 18, trisomy 13 and X chromosome aneuploidy, and the positive rate was 0.67%, 0.15%, 0.07% and 0.49%, respectively. Among the 74, 13, 8 and 44 high-risk cases who accepted chromosome karyotype analysis, respectively, 67 cases were diagnosed with trisomy 21, 12 cases with trisomy 18, one case with trisomy 13, and 18 cases with numerical X chromosome abnormality. The positive predictive value was 90.5% (67/74), 12/13, 1/8 and 40.9% (18/44), respectively. One pregnant woman who was reported as high-risk trisomy 21 following NIPT, but high-risk trisomy 18 at prior serum screening, was eventually diagnosed with fetal trisomy 18 by chromosome karyotype analysis, whose placenta was a mosaic of trisomy 21 and trisomy 18. High-risk following serum screening was the most common indication for NIPT accounting for 46.4% (6 056/13 041), followed by low-risk but asking for testing (28.9%, 3 773/13 041) and advanced age (20.5%, 2 673/13 041). Conclusions High-risk, low-risk but asking for testing and advanced maternal age are common indications for NIPT in Jiangsu Province. The positive predictive value of NIPT for trisomy 21 or trisomy 18 is relatively high, but is much lower for trisomy 13 or X chromosome aneuploidy.

Gestational, perinatal and family findings of patients with Patau syndrome / Hallazgos gestacionales, perinatales y familiares de pacientes con sindrome de Patau / Achados gestacionais, perinatais e familares de pacientes com sindrome de Patau

OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients. .

OBJETIVO: Describir los hallazgos gestacionales, perinatales y familiares de pacientes con síndrome de Patau (SP) y compararlos con los de la población de nacidos vivos de la misma provincia, Rio Grande do Sul, presentes en la base de datos del Sistema Único de Salud (DATASUS). MÉTODOS: Esa investigación implicó a pacientes con diagnóstico de SP evaluados consecutivamente durante 38 años en el Servicio de Genética de un hospital pediátrico de referencia en el sur de Brasil. Los datos clínicos y los resultados del análisis citogenético fueron recogidos de los prontuarios médicos. Para el análisis estadístico, se utilizaron la prueba exacto de Fisher bicaudado y la prueba del chi cuadrado con corrección de Yates (p<0,05). RESULTADOS: La muestra fue compuesta por 27 pacientes, el 63% del sexo masculino, con mediana de edad en la primera evaluación de nueve días. La trisomía libre del cromosoma 13 fue el principal hallazgo citogenético (74%). Solamente seis pacientes presentaban relato de ultrasonografía obstétrica y ninguno tuvo diagnóstico pre-natal de SP. Al comparar los datos de esa muestra con los datos de nacidos vivos en la misma provincia, se observó que, para los pacientes con SP, hubo mayor frecuencia de madres con edad >35 años (37,5%); multíparas (92,6%); parto vaginal (77%); prematuridad (34,6%); peso al nacer <2.500g (33,3%) y escore de Apgar <7 en el 1º (75%) y 5º minuto (42,9%). Aproximadamente mitad de los pacientes (53%) murió en el primer mes de vida. CONCLUSIONES: El entendimiento de los hallazgos gestacionales, perinatales y familiares de SP lleva a importantes repercusiones, especialmente sobre la decisión respecto a las conductas a tomar en el manejo de esos pacientes. .

OBJETIVO: Descrever os achados gestacionais, perinatais e familiares de pacientes com síndrome de Patau (SP). MÉTODOS: Esta pesquisa envolveu pacientes com diagnóstico de SP avaliados consecutivamente durante 38 anos no Serviço de Genética de um hospital pediátrico de referência do sul do país. Os dados clínicos e os resultados da análise citogenética foram coletados dos prontuários médicos. Para a análise estatística, utilizaram-se o teste exato de Fisher bicaudado e o teste do qui-quadrado com correção de Yates (p<0,05). RESULTADOS: A amostra foi composta por 27 pacientes, 63% do sexo masculino, com mediana de idade na primeira avaliação de nove dias. A trissomia livre do cromossomo 13 foi o principal achado citogenético (74%). Somente seis pacientes apresentavam relato de ultrassom obstétrico e nenhum teve diagnóstico pré-natal de SP. Ao comparar os dados da presente amostra com os dados de nascidos vivos do mesmo estado, observou-se que, para os pacientes com SP, houve maior frequência de mães com idade >35 anos (37,5%); multíparas (92,6%); parto vaginal (77%), prematuridade (34,6%), peso ao nascer <2500g (33,3%) e escore de Apgar <7 no 1º (75%) e 5º minuto (42,9%). Cerca de metade dos pacientes (53%) morreu no primeiro mês de vida. CONCLUSÕES: O entendimento dos achados gestacionais, perinatais e familiares da SP leva a importantes repercussões, especialmente sobre a decisão quanto às condutas a serem tomadas no manejo desses pacientes. .

Apresentações clínicas não usuais de pacientes portadores de síndrome de Patau e Edwards: um desafio diagnóstico? / Unusual clinical presentations of patients with Patau and Edwards syndromes: a diagnostic challenge?

OBJETIVO: Relatar dois pacientes, um acometido por trissomia do cromossomo 13 em mosaico e outro por trissomia do cromossomo 18, ambos com apresentações clínicas não usuais. DESCRIÇÃO DO CASO: Paciente do sexo feminino de dois meses de idade, que apresentava deficiência de crescimento, dismorfias menores de face e de membros, paresia facial unilateral, cardiopatia congênita, hipotonia e evolução com o surgimento de manchas hipocrômicas e atraso do desenvolvimento neuropsicomotor. O segundo caso é de um paciente do sexo masculino, com 19 dias de vida, que também mostrava deficiência de crescimento, anomalias faciais menores, defeito radial, cardiopatia congênita e hipertonia. Os cariótipos por bandas GTG confirmaram o diagnóstico, respectivamente, de síndromes de Patau e de Edwards. COMENTÁRIOS: Os presentes relatos têm por objetivo alertar os pediatras sobre manifestações não usuais nas trissomias dos cromossomos 13 e 18, as quais podem dificultar a suspeita diagnóstica.

OBJECTIVE: Report two patients, one with trisomy 13 mosaicism and the other with trisomy 18, both with unusual clinical presentations. CASE DESCRIPTION: The first case was a female patient with two months of age who presented growth deficiency, minor dysmorphia of face and limbs, unilateral facial paresis, congenital heart defect and hypotonia, who developed hypochromic spots and neuropsychomotor delay. The second case was a male patient with 19 days of age who also had growth deficiency, minor facial anomalies, radial defect, congenital heart defect and hypertonia. GTG-Banding karyotypes confirmed the diagnosis of Patau and Edwards syndromes respectively. COMMENTS: The aim of these reports is to call attention to the fact that Patau and Edwards syndromes may present an unusual pattern of abnormalities, making the diagnostic hypothesis difficult.