Systems and methods for determining the probability of a pregnancy at a selected point in time

Abstract

The present invention generally relates to systems and methods for determining the probability of a pregnancy at a selected point in time. Systems and methods of the invention employ an algorithm that has been trained on a reference set of data from a plurality of women for whom at least one of fertility-associated phenotypic traits, fertility-associated medical interventions, or pregnancy outcomes are known, in which the algorithm accounts for any woman who ceases pregnancy attempts prior to reaching a live birth outcome.

What is claimed is: 
     
         1 . A system for determining a probability of achieving a pregnancy at a selected point in time, the system comprising:
 a central processing unit (CPU); and   storage coupled to said CPU for storing instructions that when executed by the CPU cause the CPU to:   accept as input, data representative of a plurality of fertility-associated phenotypic traits of a female subject; and   provide a probability of achieving a pregnancy at a selected point in time as a result of running an algorithm on said input data, the algorithm having been trained on a reference set of data from a plurality of women for whom at least one of fertility-associated phenotypic traits, fertility-associated medical interventions, or pregnancy outcomes are known, wherein the algorithm accounts for any woman who ceases pregnancy attempts prior to reaching a live birth outcome.   
     
     
         2 . The system of  claim 1 , wherein the pregnancy results in a live birth. 
     
     
         3 . The system of  claim 1 , wherein said fertility-associated phenotypic traits are adjusted per pre-specified time interval or fertility-associated medical intervention. 
     
     
         4 . The system of  claim 1 , wherein said data are obtained from at least one selected from the group consisting of a questionnaire, a medical history of said subject, a family medical history of said subject, and a combination thereof. 
     
     
         5 . The system of  claim 1 , wherein said data are obtained by analyzing a sample collected from a person selected from the group consisting of: said female subject, intimate partners of said subject, blood-related relatives of said subject, gamete donors, embryo donors, gestational carriers, and a combination thereof. 
     
     
         6 . The system of  claim 5 , wherein said sample is a human tissue or bodily fluid. 
     
     
         7 . The system of  claim 1 , wherein the data of the female subject further comprises fertility-associated genotypic traits of the female subject. 
     
     
         8 . The system of  claim 7 , wherein the reference set of data from the plurality of women further comprises fertility-associated genotypic traits. 
     
     
         9 . The system of  claim 7 , wherein the genotypic traits of the subject are obtained by conducting an assay on a sample from the subject to determine the presence or absence of a genetic variation that is associated with infertility. 
     
     
         10 . The system of  claim 9 , wherein the assay is selected from the group consisting of: sequencing, hybridization to an array, and an amplification reaction. 
     
     
         11 . The system of  claim 9 , wherein the genetic variation is selected from the group consisting of: a single nucleotide polymorphism, a deletion, an insertion, a rearrangement, a copy number variation, and a combination thereof. 
     
     
         12 . The system of  claim 7 , wherein the genotype traits are reflective of expression levels of one or more fertility-associated genes. 
     
     
         13 . The system of  claim 1 , wherein the fertility-associated phenotypic trait is a trait selected from Table 1. 
     
     
         14 . The system of  claim 1 , wherein the algorithm is stored at a remote location and the CPU communicates across a network to access said algorithm. 
     
     
         15 . The system of  claim 1 , wherein the algorithm is stored locally within the CPU and the CPU accesses the algorithm within the CPU. 
     
     
         16 . The system of  claim 1 , wherein the algorithm accounts for any woman who ceases pregnancy attempts without reaching a live birth outcome by weighting the remaining women in the reference set. 
     
     
         17 . The system of  claim 17 , wherein the weighting is determined by modeling the likelihood of dropout. 
     
     
         18 . The system of  claim 1 , wherein the data further comprises a plurality of fertility-associated phenotypic traits of a male subject. 
     
     
         19 . A method for determining a probability of achieving a pregnancy at a selected point in time, the method comprising:
 accepting as input, data representative of a plurality of fertility-associated phenotypic traits of a female subject; and   providing a probability of achieving a pregnancy at a selected point in time as a result of running an algorithm on said input data, the algorithm having been trained on a reference set of data from a plurality of women for whom at least one of fertility-associated phenotypic traits, fertility-associated medical interventions, or pregnancy outcomes are known, wherein the algorithm accounts for any woman who ceases pregnancy attempts prior to reaching a live birth outcome.   
     
     
         20 . The method of  claim 19 , wherein the pregnancy results in a live birth. 
     
     
         21 . The method of  claim 19 , wherein said fertility-associated traits are adjusted per pre-specified time interval or fertility-associated medical intervention. 
     
     
         22 . The method of  claim 19 , wherein said data are obtained from at least one selected from the group consisting of a questionnaire, a medical history of said subject, a family medical history of said subject, and a combination thereof. 
     
     
         23 . The method of  claim 19 , wherein said data are obtained by analyzing a sample collected from a person selected from the group consisting of: said female subject, intimate partners of said subject, blood-related relatives of said subject, gamete donors, embryo donors, gestational carriers, and a combination thereof. 
     
     
         24 . The method of  claim 23 , wherein said sample is a human tissue or bodily fluid. 
     
     
         25 . The method of  claim 19 , wherein the data of the female subject further comprises fertility-associated genotypic traits of the female subject. 
     
     
         26 . The method of  claim 25 , wherein the reference set of data from the plurality of women further comprises fertility-associated genotypic traits. 
     
     
         27 . The method of  claim 25 , wherein the genotypic traits of the subject are obtained by conducting an assay on a sample from the subject to determine the presence or absence of a genetic variation that is associated with infertility. 
     
     
         28 . The method of  claim 27 , wherein the assay is selected from the group consisting of: sequencing, hybridization to an array, and an amplification reaction. 
     
     
         29 . The method of  claim 28 , wherein the genetic variation is selected from the group consisting of: a single nucleotide polymorphism, a deletion, an insertion, a rearrangement, a copy number variation, and a combination thereof. 
     
     
         30 . The method of  claim 25 , wherein the genotype traits are reflective of expression levels of one or more fertility-associated genes. 
     
     
         31 . The method of  claim 19 , wherein the fertility-associated phenotypic trait is a trait selected from Table 1. 
     
     
         32 . The method of  claim 19 , wherein the data further comprises a plurality of fertility-associated phenotypic traits of a male subject. 
     
     
         33 . A method for determining a probability of achieving a pregnancy at a selected point in time, the method comprising, the method comprising:
 inputting data representative of a plurality of fertility-associated phenotypic traits of a female subject into a computer; and   causing the computer to provide a probability of achieving a pregnancy at a selected point in time as a result of running an algorithm on the inputted data, the algorithm having been trained on a reference set of data from a plurality of women for whom at least one of fertility-associated phenotypic traits, fertility-associated medical interventions, or pregnancy outcomes are known, wherein the algorithm accounts for any woman who ceases pregnancy attempts prior to reaching a live birth outcome.   
     
     
         34 . The method of  claim 33 , wherein the pregnancy results in a live birth. 
     
     
         35 . The method of  claim 33 , wherein the data of the female subject further comprises fertility-associated genotypic traits of the female subject. 
     
     
         36 . The method of  claim 35 , wherein the reference set of data from the plurality of women further comprises fertility-associated genotypic traits. 
     
     
         37 . The method of  claim 35 , wherein the genotypic traits of the subject are obtained by conducting an assay on a sample from the subject to determine the presence or absence of a genetic variation that is associated with infertility. 
     
     
         38 . The method of  claim 33 , wherein the algorithm set is stored at a remote location and the computer communicates across a network to access said algorithm. 
     
     
         39 . The method of  claim 33 , wherein the algorithm is stored locally within the computer and the computer accesses the algorithm within the computer. 
     
     
         40 . The method of  claim 33 , wherein the data further comprises a plurality of fertility-associated phenotypic traits of a male subject.