Indications For Invasive Testing Research Articles

Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature.

The recurrent 1q21.1 microdeletion syndrome is an autosomal dominant disorder and is characterized by dysmorphic facial features, microcephaly, developmental delay, and congenital defects. However, most studies on the distal deletions in the 1q21.1 region were diagnosed postnatally. This study aimed to provide a better understanding of the ultrasound and molecular findings of fetuses with recurrent 1q21.1 microdeletions in prenatal diagnosis. In this retrospective study, we reported 21 cases with the recurrent 1q21.1 microdeletion syndrome diagnosed at our prenatal diagnostic center from January 2016 to January 2023. The clinical data were reviewed for these cases, including the maternal demographics, indications for invasive testing, ultrasound findings, CMA results, and pregnancy outcomes. In the study, a total of 21 cases with recurrent 1q21.1 microdeletions were diagnosed prenatally by CMA. Fifteen cases were described with ultrasound indications, and the most common findings are as follows: increased nuchal translucency (NT) (26.7%), intrauterine growth retardation (IUGR) (26.7%), congenital heart defects (CHD) (20%), and congenital anomalies of the kidney and urinary tract (CAKUT) (13.3%). All the cases with the distal 1q21.1 deletions contain the common minimal region (located between BP3 and BP4) and eight OMIM genes. Parental studies to determine the inheritance of the deletion were performed for eight cases, and half of the cases were inherited from one of the parents. Pregnancy outcomes were available for nine cases; eight (88.9%) pregnancies were determined to be terminated and one (11.1%) was full-term delivery. To our knowledge, this is the largest study to find that fetuses with recurrent 1q21.1 microdeletions were closely associated with increased NT, CHD, IUGR, and CAKUT. In addition, ours is the first study to report that cerebral ventriculomegaly might be associated with recurrent 1q21.1 microdeletions. More comprehensive studies are needed for a better understanding of the prenatal phenotype-genotype relationship of the recurrent 1q21.1 microdeletion syndrome in future.

Indication for invasive testing in the age of expanded carrier screening

Indication for invasive testing in the age of expanded carrier screening

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis

BackgroundThere are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome.MethodsIn this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021. We systematically reviewed clinical data from these cases, including indications for invasive testing, sonographic findings, QF-PCR results, chromosomal microarray analysis results, and pregnancy outcomes.ResultsIn this study, the common ultrasound features were ventricular septal defect (37.5%), intrauterine growth retardation (25%), and aortic coarctation (25%). Moreover, all patients were found to have a common deletion in the Williams-Beuren syndrome chromosome region at the 7q11.23 locus, which contained the elastin gene. Deletion sizes ranged from 1.42 to 2.07 Mb. Seven parents asked for termination of pregnancy, and one patient was lost to follow-up.ConclusionsThis study is the most extensive prenatal study using chromosomal microarray analysis technology for detailed molecular analysis of Williams-Beuren syndrome cases. We reported three cases combined with first-reported ultrasound manifestations. Case 1 was concomitant with multicystic dysplastic kidney and duodenal atresia combined with case 3. Notably, case 4 was combined with multiple cardiovascular malformations: Tetralogy of Fallot, right aortic arch, and supravalvar aortic stenosis. These manifestations expand the intrauterine ultrasound phenotype of Williams-Beuren syndrome in previous literature reports.

Frequency and clinical significance of chromosomal inversions prenatally diagnosed by second trimester amniocentesis

To compare the frequency and clinical significance of familial and de novo chromosomal inversions during prenatal diagnosis. This was a retrospective study of inversions diagnosed prenatally in an Asian population by applying conventional GTG-banding to amniocyte cultures. Data from 2005 to 2019 were extracted from a single-center laboratory database. The types, frequencies, and inheritance patterns of multiple inversions were analyzed. Pericentric variant inversions of chromosome 9 or Y were excluded. In total, 56 (0.27%) fetuses with inversions were identified in the 15-year database of 21,120 confirmative diagnostic procedures. Pericentric and paracentric inversions accounted for 62.5% (35/56) and 37.5% of the inversions, respectively. Familial inversions accounted for nearly 90% of cases, and de novo mutation was identified in two pericentric and two paracentric cases. Inversions were most frequently identified on chromosomes 1 and 2 (16.1% of all inversions), followed by chromosomes 6, 7, and 10 (8.9% of all cases). The indications for invasive testing were as follows: advanced maternal age (67.3%), abnormal ultrasound findings (2.1%), abnormal serum aneuploidy screening (20.4%), and other indications (10.2%). The mode of inheritance was available for 67.9% of cases (38/56), with 89.5% of inversions being inherited (34/38). A slight preponderance of inheritance in female fetuses was observed. Three patients with inherited inversions opted for termination (two had severe central nervous system lesions and one had thalassemia major). Gestation continued for 53 fetuses, who exhibited no structural defects at birth or significant developmental problems a year after birth. Our study indicates that approximately 90% of prenatally diagnosed inversions involve familial inheritance, are spreading, and behave like founder effect mutations in this isolated population on an island. This finding can help to alleviate anxiety during prenatal counseling, which further underscores the importance of parental chromosomal analysis, further genetic studies, and appropriate counseling in cases where a nonfamilial inversion is diagnosed.

Prenatal Invasive Testing at a Tertiary Referral Center in India: A Report of 433 Cases Under a Single Operator.

Chromosomal aneuploidies are major causes of perinatal death and childhood handicap. Awareness about screening and prenatal diagnosis for these disorders among obstetricians and primary care physicians is increasing. Since invasive tests like amniocentesis or chorionic villus sampling (CVS) are associated with a risk of miscarriage these tests should be carried out judiciously in pregnancies considered to be at high risk for aneuploidies and other genetic disorders. The purpose of our study was to examine the patterns, trends and outcomes of the various screening procedures and invasive tests results. Retrospective observational study done over a period of 3years and one month including 433 pregnant women with high risk for genetic disorders undergoing invasive prenatal testing like chorionic villus sampling, amniocentesis or cordocentesis. Data were collected from our department records regarding the maternal age, indication for invasive testing, past obstetric history, family history of genetic syndromes, ultrasound findings in the current sonographic examination and the results of the tests done. Any immediate or late complications of the procedure if any were telephonically addressed. A total of 436 procedures on 433 patients (418 singleton,12 single fetus of twin, 3 both fetuses of twins) were done out of which 281 were amniocentesis(64.4%), 153 were chorionic villus sampling (35.1%) and 2 were cordocentesis(< 1%). Of the 436 procedures, 373(85.5%) were done for positive screening tests for chromosomal aneuploidies and 63(14.4%) were done for previous history of genetic syndromes. The positive predictive value of biochemical marker alone was around 2.7% and higher around 13% for a combined first trimester or a second-trimester screen along with ultrasound abnormalities. The higher the biochemical risk does not translate into higher chance of chromosomal abnormality. Nineteen percentage of fetuses with NT above 95th centile had chromosomal abnormality. Twenty-one percentage of fetuses with absent nasal bone in our study had trisomy 21. Aneuploidy screening is the most common indication for prenatal invasive testing with dual marker combined with nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow providing the best detection rates. The chance of an affected fetus in a patient with aneuploidy screen positive overall is only 6.7%.

Nuchal translucency of 3.0-3.4mm an indication for NIPT or microarray? Cohort analysis and literature review.

IntroductionCurrently fetal nuchal translucency (NT) ≥3.5 mm is an indication for invasive testing often followed by chromosomal microarray. The aim of this study was to assess the risks for chromosomal aberrations in fetuses with an NT 3.0‐3.4 mm, to determine whether invasive prenatal testing would be relevant in these cases and to assess the residual risks in fetuses with normal non‐invasive prenatal test (NIPT) results.Material and methodsA retrospective study and meta‐analysis of literature cases with NT between 3.0 and 3.4 mm and 2 cohorts of pregnant women referred for invasive testing and chromosomal microarray was performed: Rotterdam region (with a risk >1:200 and NT between 3.0 and 3.4 mm) tested in the period July 2012 to June 2019 and Central Denmark region (with a risk >1:300 and NT between 3.0 and 3.4 mm) tested between September 2015 and December 2018.ResultsA total of 522 fetuses were referred for invasive testing and chromosomal microarray. Meta‐analysis indicated that in 1:7.4 (13.5% [95% CI 8.2%‐21.5%]) fetuses a chromosomal aberration was diagnosed. Of these aberrant cases, 47/68 (69%) involved trisomy 21, 18, and 13 and would potentially be detected by all NIPT approaches. The residual risk for missing a (sub)microscopic chromosome aberration depends on the NIPT approach and is highest if NIPT was performed only for common trisomies–1:21 (4.8% [95% CI 3.2%‐7.3%]). However, it may be substantially lowered if a genome‐wide 10‐Mb resolution NIPT test was offered (~1:464).ConclusionsBased on these data, we suggest that the NT cut‐off for invasive testing could be 3.0 mm (instead of 3.5 mm) because of the high risk of 1:7.4 for a chromosomal aberration. If women were offered NIPT first, there would be a significant diagnostic delay because all abnormal NIPT results need to be confirmed by diagnostic testing. If the woman had already received a normal NIPT result, the residual risk of 1:21 to 1:464 for chromosome aberrations other than common trisomies, dependent on the NIPT approach, should be raised. If a pregnant woman declines invasive testing, but still wants a test with a broader coverage of clinically significant conditions then the genome‐wide >10‐Mb resolution NIPT test, which detects most aberrations, could be proposed.

Early prenatal detection of triploidy: a 9-year experience in mainland China

Objective In this study, we report the indications for prenatal cytogenetic diagnosis of triploid cases, in an attempt to identify clues to early diagnosis. Study design This was a retrospective analysis of prenatal cases of triploidy during a 9-year period at mainland China. Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, fetal ultrasound findings, and pregnancy outcomes. Results A total of 22 singleton pregnancies affected with triploid fetuses were detected. The fetal karyotype included 69,XXX (72.7%) and 69,XXY (27.3%). Eighteen cases were identified by the first trimester screening program. One case was missed by maternal cell-free DNA testing, but detected by second trimester anatomy scan. Three cases escaped the first trimester screening and were detected by second trimester anatomy scan. Conclusions The present study demonstrates that most triploid cases can be diagnosed prenatally during the first trimester. The early asymmetrical fetal growth restriction, structural anomalies, and extremely high risk serum screening result for trisomy 21 or 18 should alert the physicians to the investigation of triploidy. Key Message Ultrasound-based first-trimester screening plays a major role in early diagnosis of fetal triploidy. Future replacement of routine first-trimester screening by cell-DNA testing might miss the chance of early diagnosis and management of triploid pregnancies.

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

BackgroundCri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China.Case presentationA total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order.ConclusionPrenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies

PurposeTo evaluate the diagnostic yield of chromosomal microarray (CMA) in pregnancies with normal ultrasound. MethodsThis retrospective cohort analysis included all pregnancies with normal ultrasound undergoing CMA testing between the years 2010 and 2016. We calculated the rate of detection of clinically significant CMA findings in the whole cohort and according to various indications. ResultsOf 5541 CMA analyses, clinically significant findings were yielded in 78 cases (1.4%). Of these, 31 (39.7%) variants could have theoretically been detected by karyotyping (e.g., sized above 10 Mb), and 28 (35.9%) by noninvasive prenatal screening aimed at five common aneuploidies. Of the 47 submicroscopic findings detectable by CMA only, the majority (37 cases, 78.7%) represented known recurrent syndromes. Detection of clinically significant CMA findings in women with no indication for invasive testing was 0.76% (21/2752), which was significantly lower compared with 1.8% in advanced maternal age group (41/2336), 2.8% in abnormal biochemical serum screening (6/211), and 4.1% (10/242) in fetuses with sonographic soft markers. ConclusionClinically significant CMA aberrations are detected in 1 of 71 pregnancies with normal ultrasound, and in 1 of 131 women with no indication for invasive testing. Thus, CMA might be recommended a first-tier test in pregnancies with normal ultrasound.

Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results

Objective Only a small number of reports have been made on the prenatal ultrasound findings observed in 1p36 deletion syndrome. We explored prenatal diagnosis of 1p36 deletion by ultrasound as well as chromosomal microarray (CMA), and delineated the fetal presentation of this syndrome. Study design This was a retrospective analysis of 10 new prenatal cases of 1p36 deletion identified by CMA at a single Chinese medical center. Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. Results One case was diagnosed because of a positive cell-free DNA (cfDNA) testing result for terminal 1p deletion, and the remaining nine cases were identified because of an abnormal ultrasound findings, including early miscarriage, structural abnormalities and fetal growth restriction. CMA revealed 1p36 deletions to be terminal in six cases, and interstitial in four cases. Deletion sizes ranged from 1.7 to 42.7 Mb. Conclusions Prenatal findings such as cardiac malformations, especially Ebstein anomaly, and fetal growth retardation should warrant the diagnosis of 1p36 deletion and invasive genetic testing using CMA.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results

ObjectiveTo present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. Study designThis was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. ResultsThree cases were diagnosed at the first trimester because of an increased NT or cystic hygroma. The remaining seven cases were identified at late gestation for abnormal ultrasound findings. CMA revealed 4p deletions to be terminal in all of the ten cases. Deletion sizes ranged from 2.05 to 19.02 Mb. ConclusionPrenatal findings such as increased NT, severe and early onset intrauterine growth retardation, and renal dysplasia or oligohydramnios should warrant the diagnosis of WHS and invasive testing using CMA.

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

Chromosomal microarray analysis (CMA) is utilized in prenatal diagnosis to detect chromosomal abnormalities not visible by conventional karyotyping. A prospective cohort of women undergoing fetal CMA and karyotyping following abnormal prenatal ultrasound findings is presented in the context of a systematic review and meta-analysis of the literature describing detection rates by CMA and karyotyping. We performed a prospective cohort study of 243 women undergoing CMA alongside karyotyping when a structural abnormality was detected on prenatal ultrasound. A systematic review of the literature was also performed. MEDLINE (1970-Dec 2012), EMBASE (1980-Dec 2012) and CINAHL (1982-June 2012) databases were searched electronically. Selected studies included > 10 cases and prenatal CMA in addition to karyotyping. The search yielded 560 citations. Full papers were retrieved for 86, and 25 primary studies were included in the systematic review. Our cohort study found an excess detection rate of abnormalities by CMA of 4.1% over conventional karyotyping when the clinical indication for testing was an abnormal fetal ultrasound finding; this was lower than the detection rate of 10% (95% CI, 8-13%) by meta-analysis. The rate of detection for variants of unknown significance (VOUS) was 2.1% (95% CI, 1.3-3.3%) when the indication for CMA was an abnormal scan finding. The VOUS detection rate was lower (1.4%; 95% CI, 0.5-3.7%) when any indication for prenatal CMA was meta-analyzed. We present evidence for a higher detection rate by CMA than by karyotyping not just in the case of abnormal ultrasound findings but also in cases of other indications for invasive testing. It is likely that CMA will replace karyotyping in high-risk pregnancies.

562: Trends in invasive prenatal diagnosis from 2002-2011: a population-based evaluation

population-based evaluation Adeeb Khalifeh, Stuart Weiner, Dhanya Mackeen, Andrew Gerson, Donnenfeld Alan Lankenau Medical Center, Obstericcs and Gynecology, Wynnewood, PA, Thomas Jefferson University, Obstetrics and Gynecology, Philadelphia, PA OBJECTIVE: To examine population-based trends in chorionic villus sampling (CVS) and amniocentesis utilization and advanced maternal age (AMA) as an indication for invasive prenatal diagnosis. STUDY DESIGN: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing, including CVS or amniocentesis, between June 2002 and December 2011 in the Mainline Health System Hospitals in Pennsylvania. Sequential screening was first offered to all patients in November 2006. We divided the study period into two groups representing two time periods: Group I from June 2002 to October 2006, and Group II from November 2006 to December 2011. Main outcome measures were trends in CVS and amniocentesis utilization and AMA as an indication for invasive testing. Chi square test was used for statistical analysis. A p value 0.05 was considered significant. RESULTS: There were 69,844 deliveries and 4,697 invasive procedures during the study period. Group I had 31,277 deliveries, compared with 38,567 in Group II (p NS). There were 2,755 procedures in Group I, and 2,758 in Group II (p 0.01), with a mean maternal age of 36 and 36.2 years, respectively (p NS). In Group I, there were 1,990 cases of amniocentesis versus 1,610 in Group II (p 0.01). There were also 765 cases of CVS in Group I, compared to 1,148 in Group II (p 0.01). Among the women in the study, 1,953 from Group I and 1,486 from Group II were referred for the sole indication of AMA (p 0.01). Group I had 172 abnormal results, while Group II had 245 (p NS). Among those, the number of fetuses of any trisomy was 92 (4.6%) and 102 (6.8%) for each group, respectively (p NS). CONCLUSION: There was a decrease in the incidence of invasive prenatal testing over the study period, as well as AMA as an indication for testing. There was a change in the pattern of invasive testing over time with a reduction in amniocentesis procedures and an increase in CVS uptake. This is likely due to the ability to obtain first trimester results with sequential screening.

Prenatal diagnosis of Cri du Chat syndrome: four cases report

Cri du Chat syndrome results from a deletion of the short arm of chromosome 5 (5p-). The size of the deletion ranges from the entire short arm to the region 5P 15.3 (5–40 Mb) [1]. The incidence ranges from 1:15,000 to 1:50,000 live-born infants. Hallmark clinical features include a mewing crying, a round face, microcephaly, micrognathia, hypertelorism, epicanthic folds, low-set ears, short stature and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias and cryptorchidism. The majority of the affected cases were found in infancy and childhood. Prenatal diagnosis of the distal 5p deletion is uncommon. The present report describes four prenatal diagnosis cases of Cri du Chat syndrome in association with abnormal ultrasonographic markers. During the past ten years, we had four women with pregnancies confirmed prenatally to have the distal 5p deletion by karyotyping at our center. The indications for invasive testing were summarized in Table I. Antenatal detection can be of benefit with all types of birth defects in giving the couple the option to either terminate the pregnancy or prepare for the delivery of an affected child. Prenatal diagnosis may be offered to pregnant women with a family history of Cri du Chat, but this will identify only a small number of cases that are associated with unequal segregation of a parental translocation. The majority of cases arise de novo, precluding prenatal diagnosis due to family history; therefore, if they are to be identified, it will be only through routine prenatal care. In contrast with the well-established prenatal screening methods for trisomy 21, screening strategies for Cri du Chat are not developed because of its extremely low incidence, although there were occasional reports that prenatal diagnosis was made following abnormal maternal serum biochemical markers [2,3]. Ultrasound scan for fetal anomalies is the most effective screening test, and the majority of reported cases detected in utero were due to abnormal ultrasonographic features [4–10]. As also shown in the current study, three out of four our affected pregnancies were referred for the indication of abnormal ultrasound findings. The remaining one case was identified by chance because of maternal pericentric inversion of chromosome 7. Indeed, a detailed scan at 24 weeks after the availability of karyotype result showed that the fetus had cerebellar hypoplasia, bilateral hydronephrosis and single umbilical artery. Our case report serves as a reminder that it is crucial to carry out a careful scan of basic and extended fetal biometry and structures during second trimester ultrasound examination, as well as soft markers to allow the detection of rarer chromosomal abnormalities.

Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment

To compare the indications for invasive prenatal testing resulting in the detection of translocation Down syndrome and complete trisomy 21. This case control study was based on a large amniocentesis and chorionic villi samples database (n = 534,795). All specimens with translocation Down syndrome (n = 203) comprised the translocation group and were compared with a maternal age-matched group (4 to 1, n = 812) in which complete trisomy 21 was detected. Women with a normal karyotype were randomly selected (n = 812) and served as controls. Indications for invasive testing were compared among the 3 paired groups using χ(2) analysis. There were no differences in the incidence of abnormal first- and second-trimester screening tests between the translocation Down syndrome and the complete trisomy 21 groups. History of prior aneuploidy was significantly more frequent in the translocation Down syndrome group, as compared with either complete trisomy 21 fetuses or normal controls. Fetuses with translocation Down syndrome present with the same screening abnormalities as fetuses with complete trisomy 21.

Impacto de la introducción en el primer trimestre del cribado combinado de trisomía 21 en la tasa de procedimientos invasivos

ObjectiveTo study the impact of introducing first-trimester combined Down syndrome screening on invasive prenatal testing for prenatal diagnosis, together with the criteria change from 35 to 38 years old as the indication for obtaining the fetal karyotype. Material and methodsA retrospective population-based study was carried out of invasive tests for prenatal diagnosis performed at the Cabueñes Hospital in Gijón (Spain). A first period from 31-1-2004 to 30-1-2006 (without the screening program) was compared with a second period from 31-1-2006 to 30-1-2008 (with the screening program). During the second period the impact of screening (31-1-2006 to 30-1-2007) was differentiated from that linked to changing the maternal age criteria to 38 years old as the indication for invasive testing (31-1-2007 to 30-1-2008). ResultsDuring the second period there was an overall reduction of 31.2% in invasive testing; 21.6% was exclusively attributable to first-trimester combined Down syndrome screening. In expectant mothers aged 35 or more at delivery, the number of amniocentesis performed in the second period was reduced by 30.74%; this tendency was maintained for pregnant women aged 38 years or more, showing a reduction of 25.92%. In the second period, 30% of the expectant mothers aged 38 years or more chose to have an invasive test due to their age compared with 61.53% in the first period. ConclusionsFirst-trimester combined Down syndrome screening had a major impact on invasive testing, increasing its efficiency and, moreover, allowing detection rates to be improved.

OC021: Is ?First glance? abnormal nuchal translucency an indication for invasive testing? A prospective evaluation of 9941 women referred for early Down syndrome screening by NT measurement

OC021: Is ?First glance? abnormal nuchal translucency an indication for invasive testing? A prospective evaluation of 9941 women referred for early Down syndrome screening by NT measurement

Perioperative Risk Stratification in Patients Undergoing Noncardiac Surgery

Adverse cardiac events during noncardiac surgery are a major cause of morbidity and mortality. As the population ages, greater numbers of patients (including the elderly) are undergoing noncardiac surgical procedures; additional emphasis must therefore be placed on effective preoperative risk assessment. On a national level, the estimated annual expenditure for this process is already $3.7 billion. There is a need for both the specialist and primary care provider to execute a safe, methodical, and cost efficient screening plan. This process should identify both the patients at highest risk and also those at lowest risk. Subsequently, the emphasis should attempt to minimize the overall risk of perioperative complications. The cornerstone of risk assessment requires meticulous history taking, a thorough physical examination, and usually a chest radiograph and an ECG. Five subsequent (basic) steps for the evaluation of patients for noncardiac surgery are outlined here in assessment of clinical markers and the patient's functional capacity, risk of the surgical procedure, the need for noninvasive testing, and when appropriate, the indications for invasive testing. The AHA/ACC Practice Guidelines Committee has outlined a clinical algorithm which provides a stepwise approach to guide the clinician during the decision making process. The purpose of preoperative evaluation is not to “give medical clearance” per se, but rather to evaluate the patient's current medical status, detect stress-induced ischemia in a cost effective manner, and to make recommendations about patient management throughout the entire perioperative period.

Perioperative Risk Stratification in Patients Undergoing Noncardiac Surgery

Adverse cardiac events during noncardiac surgery are a major cause of morbidity and mortality. As the population ages, greater numbers of patients (including the elderly) are undergoing noncardiac surgical procedures; additional emphasis must therefore be placed on effective preoperative risk assessment. On a national level, the estimated annual expenditure for this process is already $3.7 billion. There is a need for both the specialist and primary care provider to execute a safe, methodical, and cost efficient screening plan. This process should identify both the patients at highest risk and also those at lowest risk. Subsequently, the emphasis should attempt to minimize the overall risk of perioperative complications. The cornerstone of risk assessment requires meticulous history taking, a thorough physical examination, and usually a chest radiograph and an ECG. Five subsequent (basic) steps for the evaluation of patients for noncardiac surgery are outlined here in assessment of clinical markers and the pa- tient's functional capacity, risk of the surgical procedure, the need for noninvasive testing, and when appropriate, the indications for invasive testing. The AHA/ACC Practice Guidelines Committee has outlined a clinical algorithm which provides a stepwise approach to guide the clinician during the decision making process. The purpose of preoperative evaluation is not to "give medical clearance" per se, but rather to evaluate the patient's current medical status, detect stress-induced ischemia in a cost effective manner, and to make recommendations about patient management throughout the entire perioperative period.