Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses

Romero Infante, Ximena Carolina; Uriel, Montserrat; Gutiérrez, Alejandra; Hernández, María Fernanda; Hernández, Andres Felipe; Jiménez, Laura Catalina; Malagón-Rojas, Jeadran Nevardo; Rincón Franco, Sara

doi:10.1055/s-0042-1744461

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Revista Brasileira de Ginecologia e Obstetrícia

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Sumário

Original Article • Rev Bras Ginecol Obstet. 44 (07) • July 2022 • https://doi.org/10.1055/s-0042-1744461 copy

Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses

Comportamento dos marcadores genéticos na triagem durante o primeiro trimestre de gravidez em fetos euploides

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Objective

This study aims to describe the behavior of chromosomopathy screenings in euploid fetuses.

Methods

This is a prospective descriptive study with 566 patients at 11 to 14 weeks of gestation. The associations between ultrasound scans and serological variables were studied. For the quantitative variables we used the Spearman test; for the qualitative with quantitative variables the of Mann-Whitney U-test; and for qualitative variables, the X² test was applied. Significance was set at p ≤ 0.05.

Results

We have found that gestational age has correlation with ductus venosus, nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, pregnancy-associated plasma protein-A and placental growth factor; there is also a correlation between history of miscarriages and nasal bone. Furthermore, we correlated body mass index with nuchal translucency, free fraction of β subunit of human chorionic gonadotropin, and pregnancy-associated plasma protein-A. Maternal age was associated with free fraction of β subunit of human chorionic gonadotropin and pregnancy-associated plasma protein-A.

Conclusion

Our study demonstrates for the first time the behavior of the biochemical and ultrasonographic markers of chromosomopathy screenings during the first trimester in euploid fetuses in Colombia. Our information is consistent with international reference values. Moreover, we have shown the correlation of different variables with maternal characteristics to determine the variables that could help with development of a screening process during the first trimester with high detection rates.

Keywords
genetic markers; screening; ultrasonography; chromosomal abnormality; pregnancy

Characteristic		%	95% CI
Maternal age (years)		27.44	(26.89–27.94)
Socioeconomic level	Low	47.7% (n= 270)	(43.59–51.82)
	Medium	48.2% (n= 273)	(44.12–52.35)
	High	4.06% (n= 23)	(2.437–5.69)
Origins	Caucasic	1.94% (n= 11)	(0.80–3.08)
	African-american	1.76% (n= 10)	(0.68–2.85)
	Mixed	96.3% (n= 545)	(94.73–97.85)
Family history of malformations		13.42% (n= 76)	(10.62–16.24)
Body mass index		24.6	(24.27–24.92)
Primipaternity		4.24% (n= 24)	(2.58–5.9)
Primigravida		25.27% (n= 143)	(21.69–28.84)
Multigravida		63.96% (n= 362)	(60–67.91)
Multigravida with history of abortions		4.06% (n= 23)	(2.43–5.69)
Smoking		8.30% (n= 47)	(6.03–10.58)
Exposition hazards and x-rays		3.53% (n= 20)	(2.01–5.05)
Obesity		8.39% (n= 48)	(6.18–10.78)
Hypothyroidism		6.12% (n= 35)	(4.2–8.16)
Hypertension		2.45% (n= 14)	(1.19–3.75)
History of preeclampsia		7.34% (n= 42)	(5.26–9.58)
History of IUGR		3.48% (n= 22)	(2.29–5.47)
History of miscarriages		30.38% (n= 172)	(26.6–34.18)

Variables	Average	95% CI
PAPP-A (mUI/ml)	3.19	(3.03–3.36)
Free β-hCG (mUI/ml)	36.43	(34.14–38.72)
PlGF (pg/ml)	31.26	(29.92–32.59)
Ductus venosus pulsatility index	0.99	(0.95–1.03)
Nuchal translucency (mm)	1.60	(1.2–2.7)
Crown-rump length (mm)	66.35	(65.58–67.11)
Fetal heart rate (lpm)	157.79	(156.98–158.60)

Variables	Variable to compare	Correlation coefficient	Statistical significance (p-value < 0,05)
Ductus venosus	Gestational age	−0.161	p= 0.000
	History of miscarriages	0.104*	p= 0.013
	History of malformations	−0.036**	p= 0.971
	Maternal age	−0.003*	p= 0.940
	Maternal BMI	−0.004*	p= 0.932
Nasal bone	Gestational age	−0.852**	p= 0.394
	History of miscarriages	−0.644**	p= 0.520
	History of malformations	308.392***	p= 0.000
	Maternal age	−1.610**	p= 0.107
	Maternal BMI	−0.733**	p= 0.464
Nuchal translucency	Gestational age	0.243*	p= 0.000
	History of miscarriages	0.045*	p= 0.287
	History of malformations	−1.320**	p= 0.187
	Maternal age	0.054*	p= 0.194
	Maternal BMI	0.119*	p= 0.005
Free β-HCG	Gestational age	−0.295*	p= 0.000
	History of miscarriages	0.002*	p= 0.969
	History of malformations	−2.138**	p= 0.033
	Maternal age	−0.102*	p= 0.014
	Maternal BMI	−0.202*	p= 0.000
PAPP-A	Gestational age	0.360*	p= 0.000
	History of miscarriages	−0.048*	p= 0.250
	History of malformations	−1.005**	p= 0.315
	Maternal age	−0.167*	p= 0.000
	Maternal BMI	−0.259*	p= 0.000
PlGF	Gestational age	0.364*	p= 0.000
	History of miscarriages	−0.038*	p= 0.369
	History of malformations	−1.040**	p= 0.298
	Maternal age	0.013*	p= 0.763
	Maternal BMI	−0.042*	p= 0.312

Variables (Values of reference)	Our results (average)	Literature (Euploid fetuses)
Nuchal translucency	1.60 mm	1.2–2.7 mm^a
Ductus venosus pulsatility index	0.99	0.6–3.3^b
Free β-HCG	36.43 mUI/ml	28.05–36.88 mUI/ml^c
PAPPA-A	3.19 mUI/ml	0.6–3.3 mUI/ml^c
PlGF	31.26 pg/ml	1.01–176.1 pg/ml^d

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[1] Address for correspondence Prof. Ximena Carolina Romero Infante, MD, Esp. MFM, Av. Carrera 9 # 131a-02, Ecodiagnóstico El Bosque S.A.S, Calle 134 # 7B – 83, Bogotá, Colombia (e-mail: romeroximena@unbosque.edu.co).