Prenatal diagnosis of major malformations: quality control of routine ultrasound examinations based on a five-year study of 20 248 newborn fetuses and infants

Queißer‐Luft, Annette; Stopfkuchen, H.; Stolz, Gabriela; Schlaefer, Klaus; Merz, Eberhard

doi:10.1002/(sici)1097-0223(199806)18:6<567::aid-pd302>3.0.co;2-3

Cited by 41 publications

(13 citation statements)

References 27 publications

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“…Most children who are born with major congenital anomalies and survive infancy are affected physically, mentally or socially and can be at increased risk of morbidity due to various health disorders (Queisser-Luft et al, 1998;WHO, 2000;Correa-Villaseñor et al, 2003). While the prevalence of congenital anomalies at birth in developed countries is reported to be between 3-5%, those reported in Turkey before the 1990s were in general lower than this figure (Göynümer et al, 2005).…”

Section: Discussionmentioning

confidence: 99%

Major congenital anomalies: a five-year retrospective regional study in Turkey

Tomatir

Demirhan²,

Sorkun³

et al. 2009

Genet. Mol. Res.

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ABSTRACT. We examined the distribution and demographic characteristics of congenital anomalies in a Turkish province for five years. The records of 63,159 live births between 2000 and 2004 were examined retrospectively. Major congenital anomalies were classified according to year, organ system, gender, family relationship, maternal age, mortality rate, and method of delivery. There were 183 cases of major birth defects among 63,159 live births, giving a prevalence of 2.9/1000. Anomalies of the central nervous system were the most common defect (31%), followed by cleft palate/lip (19%), musculoskeletal system anomalies (14%), and chromosomal anomalies (13%). Among the infants with major anomalies, 14% did not survive, 56% were delivered vaginally, and 25% were miscarried. There was a significant increase in rate of major congenital anomalies during the five-year period.

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Section: Discussionmentioning

confidence: 99%

Major congenital anomalies: a five-year retrospective regional study in Turkey

Tomatir

Demirhan²,

Sorkun³

et al. 2009

Genet. Mol. Res.

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“…The quality of anatomic ultrasounds varies considerably. 45,46 A number of medical professionals, including radiologists, perinatologists, and general obstetricians with varying degrees of training, as well as technicians, perform these ultrasounds. 47 In addition to concerns about the quality, there may be limited access to prenatal ultrasound.…”

Section: Customary Practicementioning

confidence: 99%

Role of Pulse Oximetry in Examining Newborns for Congenital Heart Disease: A Scientific Statement from the AHA and AAP

Mahle¹,

Newburger²,

Matherne³

et al. 2009

Pediatrics

318

237

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BACKGROUND: The purpose of this statement is to address the state of evidence on the routine use of pulse oximetry in newborns to detect critical congenital heart disease (CCHD). METHODS AND RESULTS: A writing group appointed by the American Heart Association and the American Academy of Pediatrics reviewed the available literature addressing current detection methods for CCHD, burden of missed and/or delayed diagnosis of CCHD, rationale of oximetry screening, and clinical studies of oximetry in otherwise asymptomatic newborns. MEDLINE database searches from 1966 to 2008 were done for English-language papers using the following search terms: congenital heart disease, pulse oximetry, physical examination, murmur, echocardiography, fetal echocardiography, and newborn screening. The reference lists of identified papers were also searched. Published abstracts from major pediatric scientific meetings in 2006 to 2008 were also reviewed. The American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. In an analysis of pooled studies of oximetry assessment performed after 24 hours of life, the estimated sensitivity for detecting CCHD was 69.6%, and the positive predictive value was 47.0%; however, sensitivity varied dramatically among studies from 0% to 100%. False-positive screens that required further evaluation occurred in only 0.035% of infants screened after 24 hours. CONCLUSIONS: Currently, CCHD is not detected in some newborns until after their hospital discharge, which results in significant morbidity and occasional mortality. Furthermore, routine pulse oximetry performed on asymptomatic newborns after 24 hours of life, but before hospital discharge, may detect CCHD. Routine pulse oximetry performed after 24 hours in hospitals that have on-site pediatric cardiovascular services incurs very low cost and risk of harm. Future studies in larger populations and across a broad range of newborn delivery systems are needed to determine whether this practice should become standard of care in the routine assessment of the neonate.

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“…Whereas the prevalence of abnormalities often depends upon the setting (e.g. tertiary care centers often have a higher prevalence of anomalies), some estimates place the frequency of renal anomalies at about one in 500 live births [9,10]. There is a broad spectrum of renal defects, from simple hydronephrosis to bilateral renal agenesis.…”

Section: Congenital Abnormalities Of the Kidney And Urinary Tract mentioning

confidence: 99%

“…There is a broad spectrum of renal defects, from simple hydronephrosis to bilateral renal agenesis. In one large population-based study of more than 20,000 fetuses and newborns, about one-third of renal anomalies were detected by prenatal ultrasound [9]. These anomalies were on average detected late in pregnancy, in the third trimester [9].…”

Section: Congenital Abnormalities Of the Kidney And Urinary Tract mentioning

confidence: 99%

“…In one large population-based study of more than 20,000 fetuses and newborns, about one-third of renal anomalies were detected by prenatal ultrasound [9]. These anomalies were on average detected late in pregnancy, in the third trimester [9]. Time of diagnosis depended upon severity of the abnormality; for example, mean time of diagnosis of bilateral renal agenesis was 24 weeks of gestation, whereas mean time of diagnosis of hydronephrosis was 30 weeks [9].…”

Section: Congenital Abnormalities Of the Kidney And Urinary Tract mentioning

confidence: 99%

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Renal development in the fetus and premature infant

Rosenblum

Pal

Reidy

2017

Seminars in Fetal and Neonatal Medicine

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SUMMARY Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading congenital defects to be identified on prenatal ultrasound. CAKUT represents a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. CAKUT is a major contributor to chronic and end stage kidney disease (CKD/ESKD) in children. Both genetic abnormalities and the fetal environment contribute to CAKUT. Monogenic gene mutations identified in human CAKUT have advanced our understanding of molecular mechanisms of renal development. Low nephron number and solitary kidneys are associated with increased risk of adult onset CKD and ESKD. Premature and low birth weight infants represent a high risk population for low nephron number. Additional research is needed to identify modifiable factors to enhance nephron development in premature infants and biomarkers and appropriate follow-up of premature and low birth weight infants into adulthood.

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Prenatal diagnosis of major malformations: quality control of routine ultrasound examinations based on a five-year study of 20 248 newborn fetuses and infants

Cited by 41 publications

References 27 publications

Major congenital anomalies: a five-year retrospective regional study in Turkey

Major congenital anomalies: a five-year retrospective regional study in Turkey

Role of Pulse Oximetry in Examining Newborns for Congenital Heart Disease: A Scientific Statement from the AHA and AAP

Renal development in the fetus and premature infant

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